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Cellosaurus GM04339 (CVCL_0M30)

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Cell line name GM04339
Synonyms GM 4339
Accession CVCL_0M30
Resource Identification Initiative To cite this cell line use: GM04339 (RRID:CVCL_0M30)
Comments Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Gly85Glu (c.254G>A); ClinVar=VCV000007143; Zygosity=Heterozygous (Coriell=GM04339).
  • Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Heterozygous (Coriell=GM04339).
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 24Y
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; GM04339
Cell line databases/resources CLO; CLO_0019563
Encyclopedic resources Wikidata; Q54838493
Entry history
Entry creation10-Apr-2015
Last entry update19-Dec-2024
Version number14