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"CVCL_XI79" } ], "name-list": [ { "type": "synonym", "value": "CFTRdTomato4" }, { "type": "synonym", "value": "CF(1)iPS5_CFTRtomatoC4" }, { "type": "identifier", "value": "MHHi002-A-3" } ], "sequence-variation-list": [ { "mutation-description": "p.Phe508del (c.1521_1523delCTT)", "mutation-type": "Simple", "source-list": [ { "value": "from parent cell line MHHi002-A", "xref": { "accession": "CVCL_QX52", "category": "Cell line databases/resources", "database": "Cellosaurus", "label": "MHHi002-A", "url": "https://www.cellosaurus.org/CVCL_QX52" } } ], "variation-type": "Mutation", "xref-list": [ { "accession": "HGNC:1884", "category": "Organism-specific databases", "database": "HGNC", "label": "CFTR", "url": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1884" }, { "accession": "VCV000007105", "category": "Polymorphism and mutation databases", "database": "ClinVar", "url": "https://www.ncbi.nlm.nih.gov/clinvar/variation/VCV000007105" } ], "zygosity-type": "Homozygous" } ] }, { "accession-list": [ { "type": "primary", "value": "CVCL_C4PA" } ], "name-list": [ { "type": "synonym", "value": "TT-CF#1_K50" }, { "type": "identifier", "value": "MHHi002-A-4" } ], "sequence-variation-list": [ { "mutation-description": "p.Phe508del (c.1521_1523delCTT)", "mutation-type": "Simple", "source-list": [ { "value": "from parent cell line MHHi002-A", "xref": { "accession": "CVCL_QX52", "category": "Cell line databases/resources", "database": "Cellosaurus", "label": "MHHi002-A", "url": "https://www.cellosaurus.org/CVCL_QX52" } } ], "variation-type": "Mutation", "xref-list": [ { "accession": "HGNC:1884", "category": "Organism-specific databases", "database": "HGNC", "label": "CFTR", "url": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1884" }, { "accession": "VCV000007105", "category": "Polymorphism and mutation databases", "database": "ClinVar", "url": "https://www.ncbi.nlm.nih.gov/clinvar/variation/VCV000007105" } ], "zygosity-type": "Homozygous" } ] }, { "accession-list": [ { "type": "primary", "value": "CVCL_C4PB" } ], "name-list": [ { "type": "synonym", "value": "TT-CF#1_K54" }, { "type": "identifier", "value": "MHHi002-A-5" } ], "sequence-variation-list": [ { "mutation-description": "p.Phe508del (c.1521_1523delCTT)", "mutation-type": "Simple", "source-list": [ { "value": "from parent cell line MHHi002-A", "xref": { "accession": "CVCL_QX52", "category": "Cell line databases/resources", "database": "Cellosaurus", "label": "MHHi002-A", "url": "https://www.cellosaurus.org/CVCL_QX52" } } ], "variation-type": "Mutation", "xref-list": [ { "accession": "HGNC:1884", "category": "Organism-specific databases", "database": "HGNC", "label": "CFTR", "url": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1884" }, { "accession": "VCV000007105", "category": "Polymorphism and mutation databases", "database": "ClinVar", "url": "https://www.ncbi.nlm.nih.gov/clinvar/variation/VCV000007105" } ], "zygosity-type": "Homozygous" } ] }, { "accession-list": [ { "type": "primary", "value": "CVCL_L745" } ], "name-list": [ { "type": "synonym", "value": "GM-1011" }, { "type": "synonym", "value": "GM01011B" }, { "type": "identifier", "value": "GM01011" } ], "sequence-variation-list": [ { "mutation-description": "p.Phe508del (c.1521_1523delCTT)", "mutation-type": "Simple", "source-list": [ { "value": "from familial inference of GM01012", "xref": { "accession": "CVCL_L744", "category": "Cell line databases/resources", "database": "Cellosaurus", "label": "GM01012", "url": "https://www.cellosaurus.org/CVCL_L744" } } ], "variation-type": "Mutation", "xref-list": [ { "accession": "HGNC:1884", "category": "Organism-specific databases", "database": "HGNC", "label": "CFTR", "url": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1884" }, { "accession": "VCV000007105", "category": "Polymorphism and mutation databases", "database": "ClinVar", "url": "https://www.ncbi.nlm.nih.gov/clinvar/variation/VCV000007105" } ], "zygosity-type": "Homozygous" } ] }, { "accession-list": [ { "type": "primary", "value": "CVCL_V209" } ], "name-list": [ { "type": "synonym", "value": "GM-1013" }, { "type": "synonym", "value": "GM01013A" }, { "type": "identifier", "value": "GM01013" } ], "sequence-variation-list": [ { "mutation-description": "p.Phe508del (c.1521_1523delCTT)", "mutation-type": "Simple", "source-list": [ { "value": "from familial inference of GM01014", "xref": { "accession": "CVCL_V210", "category": "Cell line databases/resources", "database": "Cellosaurus", "label": "GM01014", "url": "https://www.cellosaurus.org/CVCL_V210" } } ], "variation-type": "Mutation", "xref-list": [ { "accession": "HGNC:1884", "category": "Organism-specific databases", "database": "HGNC", "label": "CFTR", "url": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1884" }, { "accession": "VCV000007105", "category": "Polymorphism and mutation databases", "database": "ClinVar", "url": "https://www.ncbi.nlm.nih.gov/clinvar/variation/VCV000007105" } ], "zygosity-type": "Homozygous" } ] }, { "accession-list": [ { "type": "primary", "value": "CVCL_0M14" } ], "name-list": [ { "type": "synonym", "value": "GM-1959" }, { "type": "synonym", "value": "GM 1959" }, { "type": "identifier", "value": "GM01959" } ], "sequence-variation-list": [ { "mutation-description": "p.Phe508del (c.1521_1523delCTT)", "mutation-type": "Simple", "source-list": [ { "value": "from familial inference of GM01957", "xref": { "accession": "CVCL_0M12", "category": "Cell line databases/resources", "database": "Cellosaurus", "label": "GM01957", "url": "https://www.cellosaurus.org/CVCL_0M12" } } ], "variation-type": "Mutation", "xref-list": [ { "accession": "HGNC:1884", "category": "Organism-specific databases", "database": "HGNC", "label": "CFTR", "url": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1884" }, { "accession": "VCV000007105", "category": "Polymorphism and mutation 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"https://www.ncbi.nlm.nih.gov/clinvar/variation/VCV000007105" } ], "zygosity-type": "Unspecified" } ] }, { "accession-list": [ { "type": "primary", "value": "CVCL_0M43" } ], "name-list": [ { "type": "synonym", "value": "GM07227A" }, { "type": "identifier", "value": "GM07227" } ], "sequence-variation-list": [ { "mutation-description": "p.Phe508del (c.1521_1523delCTT)", "mutation-type": "Simple", "source-list": [ { "value": "from familial inference of GM07224", "xref": { "accession": "CVCL_0M40", "category": "Cell line databases/resources", "database": "Cellosaurus", "label": "GM07224", "url": "https://www.cellosaurus.org/CVCL_0M40" } } ], "variation-type": "Mutation", "xref-list": [ { "accession": "HGNC:1884", "category": "Organism-specific databases", "database": "HGNC", "label": "CFTR", "url": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1884" }, { "accession": "VCV000007105", "category": "Polymorphism and mutation databases", "database": "ClinVar", "url": "https://www.ncbi.nlm.nih.gov/clinvar/variation/VCV000007105" } ], "zygosity-type": "Unspecified" } ] }, { "accession-list": [ { "type": "primary", "value": "CVCL_0M96" } ], "name-list": [ { "type": "identifier", "value": "GM07902" } ], "sequence-variation-list": [ { "mutation-description": "p.Phe508del (c.1521_1523delCTT)", "mutation-type": "Simple", "source-list": [ { "value": "from familial inference of GM07904", "xref": { "accession": "CVCL_0M98", "category": "Cell line databases/resources", "database": "Cellosaurus", "label": "GM07904", "url": "https://www.cellosaurus.org/CVCL_0M98" } } ], "variation-type": "Mutation", "xref-list": [ { "accession": "HGNC:1884", "category": "Organism-specific databases", "database": "HGNC", "label": "CFTR", "url": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1884" }, { "accession": "VCV000007105", "category": "Polymorphism and mutation databases", "database": "ClinVar", "url": "https://www.ncbi.nlm.nih.gov/clinvar/variation/VCV000007105" } ], "zygosity-type": "Homozygous" } ] }, { "accession-list": [ { "type": "primary", "value": "CVCL_B5LL" } ], "name-list": [ { "type": "identifier", "value": "IMEDEAi001-F-1" } ], "sequence-variation-list": [ { "mutation-description": "p.Phe508del (c.1521_1523delCTT)", "mutation-type": "Simple_corrected", "source-list": [ { "reference": { "resource-internal-ref": "PubMed=32373648" } } ], "variation-note": "By TALEN", "variation-type": "Mutation", "xref-list": [ { "accession": "HGNC:1884", "category": "Organism-specific databases", "database": "HGNC", "label": "CFTR", "url": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1884" }, { "accession": "VCV000007105", "category": "Polymorphism and mutation databases", "database": "ClinVar", "url": "https://www.ncbi.nlm.nih.gov/clinvar/variation/VCV000007105" } ], "zygosity-type": "Homozygous" } ] }, { "accession-list": [ { "type": "primary", "value": "CVCL_YL09" } ], "name-list": [ { "type": "synonym", "value": "SZ-CF12 PGD" }, { "type": "synonym", "value": "CF#12" }, { "type": "identifier", "value": "SZ-CF12" } ], "sequence-variation-list": [ { "mutation-description": "p.Trp1282Ter (c.3846G>A)", "mutation-type": "Simple", "source-list": [ { "xref": { "accession": "NIHhESC-20-0466", "category": "Cell line databases/resources", "database": "NIHhESC", "url": "https://grants.nih.gov/stem_cells/registry/current.htm?ID=NIHhESC-20-0466" } } ], "variation-type": "Mutation", "xref-list": [ { "accession": "HGNC:1884", "category": "Organism-specific databases", "database": "HGNC", "label": "CFTR", "url": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1884" }, { "accession": "VCV000007129", "category": "Polymorphism and mutation databases", "database": "ClinVar", "url": "https://www.ncbi.nlm.nih.gov/clinvar/variation/VCV000007129" } ], "zygosity-type": "Homozygous" } ] }, { "accession-list": [ { "type": "primary", "value": "CVCL_0N17" } ], "name-list": [ { "type": "identifier", "value": "GM11859" } ], "sequence-variation-list": [ { "mutation-description": "c.2657+5G>A", "mutation-type": "Simple", "source-list": [ { "xref": { "accession": "GM11859", "category": "Cell line collections (Providers)", "database": "Coriell", "url": "https://catalog.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=GM11859&Product=CC" } } ], "variation-note": "Splicing defect", "variation-type": "Mutation", "xref-list": [ { "accession": "HGNC:1884", "category": "Organism-specific databases", "database": "HGNC", "label": "CFTR", "url": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1884" }, { "accession": "VCV000038497", "category": "Polymorphism and mutation databases", "database": "ClinVar", "url": "https://www.ncbi.nlm.nih.gov/clinvar/variation/VCV000038497" } ], "zygosity-type": "Homozygous" } ] }, { "accession-list": [ { "type": "primary", "value": "CVCL_ZG15" } ], "name-list": [ { "type": "synonym", "value": "GM27102*B" }, { "type": "identifier", "value": "GM27102" } ], "sequence-variation-list": [ { "mutation-description": "p.Phe508del (c.1521_1523delCTT)", "mutation-type": "Simple_corrected", "source-list": [ { "xref": { "accession": "GM27102", "category": "Cell line collections (Providers)", "database": "Coriell", "url": "https://catalog.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=GM27102&Product=CC" } } ], "variation-note": "By CRISPR/Cas9", "variation-type": "Mutation", "xref-list": [ { "accession": "HGNC:1884", "category": "Organism-specific databases", "database": "HGNC", "label": "CFTR", "url": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1884" }, { "accession": "VCV000007105", "category": "Polymorphism and mutation databases", "database": "ClinVar", "url": "https://www.ncbi.nlm.nih.gov/clinvar/variation/VCV000007105" } ], "zygosity-type": "Homozygous" } ] }, { "accession-list": [ { "type": "primary", "value": "CVCL_VP34" } ], "name-list": [ { "type": "identifier", "value": "CFBE41o- 4.7 WT-CFTR" } ], "sequence-variation-list": [ { "mutation-description": "p.Phe508del (c.1521_1523delCTT)", "mutation-type": "Simple", "source-list": [ { "reference": { "resource-internal-ref": "PubMed=18769032" } } ], "variation-note": "In the 2 genomic alleles while the transfected copies are wild type", "variation-type": "Mutation", "xref-list": [ { "accession": "HGNC:1884", "category": "Organism-specific databases", "database": "HGNC", "label": "CFTR", "url": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1884" }, { "accession": "VCV000007105", "category": "Polymorphism and mutation databases", "database": "ClinVar", "url": "https://www.ncbi.nlm.nih.gov/clinvar/variation/VCV000007105" } ], "zygosity-type": "Unspecified" } ] }, { "accession-list": [ { "type": "primary", "value": "CVCL_VP36" } ], "name-list": [ { "type": "identifier", "value": "CFBE41o- 6.2 WT-CFTR" } ], "sequence-variation-list": [ { "mutation-description": "p.Phe508del (c.1521_1523delCTT)", "mutation-type": "Simple", "source-list": [ { "reference": { "resource-internal-ref": "PubMed=18769032" } } ], "variation-note": "In the 2 genomic alleles while the transfected copies are wild type", "variation-type": "Mutation", "xref-list": [ { "accession": "HGNC:1884", "category": "Organism-specific databases", "database": "HGNC", "label": "CFTR", "url": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1884" }, { "accession": "VCV000007105", "category": "Polymorphism and mutation databases", "database": "ClinVar", "url": "https://www.ncbi.nlm.nih.gov/clinvar/variation/VCV000007105" } ], "zygosity-type": "Unspecified" } ] }, { "accession-list": [ { "type": "primary", "value": "CVCL_VP35" } ], "name-list": [ { "type": "synonym", "value": "CFBE41oc4-4.7deltaF" }, { "type": "identifier", "value": "CFBE41o- 4.7 DeltaF508-CFTR" } ], "sequence-variation-list": [ { "mutation-description": "p.Phe508del (c.1521_1523delCTT)", 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} } ], "variation-note": "In the 2 genomic alleles while the transfected copies are p.Phe508del", "variation-type": "Mutation", "xref-list": [ { "accession": "HGNC:1884", "category": "Organism-specific databases", "database": "HGNC", "label": "CFTR", "url": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1884" }, { "accession": "VCV000007105", "category": "Polymorphism and mutation databases", "database": "ClinVar", "url": "https://www.ncbi.nlm.nih.gov/clinvar/variation/VCV000007105" } ], "zygosity-type": "Unspecified" } ] }, { "accession-list": [ { "type": "primary", "value": "CVCL_C9DR" } ], "name-list": [ { "type": "identifier", "value": "CFPAC-1/Cas9-hyg" } ], "sequence-variation-list": [ { "source-list": [ { "value": "from parent cell line CFPAC-1", "xref": { "accession": "CVCL_1119", "category": "Cell line databases/resources", "database": "Cellosaurus", "label": "CFPAC-1", "url": "https://www.cellosaurus.org/CVCL_1119" } } ], "variation-type": "Gene deletion", "xref-list": [ { "accession": "HGNC:6770", "category": "Organism-specific databases", "database": "HGNC", "label": "SMAD4", "url": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6770" } ], "zygosity-type": "Homozygous" }, { "mutation-description": "p.Phe508del (c.1521_1523delCTT)", "mutation-type": "Simple", "source-list": [ { "value": "from parent cell line CFPAC-1", "xref": { "accession": "CVCL_1119", "category": "Cell line databases/resources", "database": "Cellosaurus", "label": "CFPAC-1", "url": "https://www.cellosaurus.org/CVCL_1119" } } ], "variation-type": "Mutation", "xref-list": [ { "accession": "HGNC:1884", "category": "Organism-specific databases", "database": "HGNC", "label": "CFTR", "url": "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1884" }, { "accession": "VCV000007105", "category": "Polymorphism and mutation databases", "database": "ClinVar", "url": "https://www.ncbi.nlm.nih.gov/clinvar/variation/VCV000007105" } ], 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