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Cellosaurus GM01957 (CVCL_0M12)

[Text version]
Cell line name GM01957
Synonyms GM-1957; GM 1957
Accession CVCL_0M12
Resource Identification Initiative To cite this cell line use: GM01957 (RRID:CVCL_0M12)
Comments Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Homozygous (Coriell=GM01957).
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 11Y
Category Finite cell line
Publications

DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977)

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

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; GM01957
Cell line databases/resources CLO; CLO_0032333
Biological sample resources BioSample; SAMN00807336
Encyclopedic resources Wikidata; Q54837204
Entry history
Entry creation10-Apr-2015
Last entry update30-Jan-2024
Version number13