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Cellosaurus GM07440 (CVCL_X463)

[Text version]
Cell line name GM07440
Accession CVCL_X463
Resource Identification Initiative To cite this cell line use: GM07440 (RRID:CVCL_X463)
Comments Population: African American.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:1884; CFTR; Simple; c.489+1G>T (621+1G>T); ClinVar=VCV000038799; Zygosity=Heterozygous; Note=Splice donor mutation (from familial inference of GM07441).
  • Mutation; HGNC; HGNC:1884; CFTR; Simple; c.2988+1G>A (3120+1G>A); ClinVar=VCV000007224; Zygosity=Heterozygous; Note=Splice donor mutation (from familial inference of GM07441).
Disease Cystic fibrosis (NCIt: C2975)
Cystic fibrosis (ORDO: Orphanet_586)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 32Y
Category Transformed cell line
Publications

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

Cross-references
Cell line collections (Providers) Coriell; GM07440
Cell line databases/resources CLO; CLO_0016860
Encyclopedic resources Wikidata; Q54842759
Entry history
Entry creation05-Sep-2014
Last entry update19-Dec-2024
Version number16