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Cellosaurus GM03466 (CVCL_0M22)

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Cell line name GM03466
Synonyms GM 3466
Accession CVCL_0M22
Resource Identification Initiative To cite this cell line use: GM03466 (RRID:CVCL_0M22)
Comments Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Heterozygous (Coriell=GM03466).
  • Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Gly551Asp (c.1652G>A); ClinVar=VCV000007120; Zygosity=Heterozygous (Coriell=GM03466).
Disease Cystic fibrosis (NCIt: C2975)
Cystic fibrosis (ORDO: Orphanet_586)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_0M21 ! GM03465
Sex of cell Male
Age at sampling 4Y
Category Finite cell line
Publications

PubMed=2445735; DOI=10.1016/S0021-9258(18)47730-7
Pei-Yuan Lin, Eric Gruenstein;
Identification of a defective cAMP-stimulated Cl- channel in cystic fibrosis fibroblasts.
J. Biol. Chem. 262:15345-15347(1987)

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; GM03466
Cell line databases/resources CLO; CLO_0017029
Biological sample resources BioSample; SAMN00808414
Encyclopedic resources Wikidata; Q54838081
Entry history
Entry creation10-Apr-2015
Last entry update19-Dec-2024
Version number14