Cellosaurus logo
expasy logo

Cellosaurus GM04331 (CVCL_0M27)

[Text][XML][JSON]
Cell line name GM04331
Accession CVCL_0M27
Resource Identification Initiative To cite this cell line use: GM04331 (RRID:CVCL_0M27)
Comments Population: African American.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Ile105Serfs*2 (c.313delA) (444delA); ClinVar=VCV000048684; Zygosity=Heterozygous (Coriell=GM04331).
  • Mutation; HGNC; HGNC:1884; CFTR; Simple; c.1680-1G>A (IVS11-1G>A) (1812-1G-A); ClinVar=VCV000048681; Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=GM04331).
Disease Cystic fibrosis (NCIt: C2975)
Cystic fibrosis (ORDO: Orphanet_586)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_0M26 ! GM04330
Sex of cell Male
Age at sampling 20Y
Category Finite cell line
Publications

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
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; GM04331
Cell line databases/resources CLO; CLO_0019583
Encyclopedic resources Wikidata; Q54838489
Entry history
Entry creation10-Apr-2015
Last entry update19-Dec-2024
Version number16