ID   GM01957
AC   CVCL_0M12
SY   GM-1957; GM 1957
DR   CLO; CLO_0032333
DR   BioSample; SAMN00807336
DR   Coriell; GM01957
DR   Wikidata; Q54837204
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=2445735;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Homozygous (Coriell=GM01957).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C2975; Cystic fibrosis
DI   ORDO; Orphanet_586; Cystic fibrosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   11Y
CA   Finite cell line
DT   Created: 10-04-15; Last updated: 19-12-24; Version: 14
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RX   PubMed=2445735; DOI=10.1016/S0021-9258(18)47730-7;
RA   Lin, Pei-Yuan
RA   Gruenstein, Eric
RT   "Identification of a defective cAMP-stimulated Cl- channel in cystic
RT   fibrosis fibroblasts.";
RL   J. Biol. Chem. 262:15345-15347(1987).
//
RX   CelloPub=CLPUB00447;
RA   Mulivor, Richard A.
RA   Suchy, Sharon F.
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//
RX   DOI=10.5962/bhl.title.4090;
RA   Coriell, Lewis Lemon
RA   Greene, Arthur E.
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 4th edition. October 1977.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977).
//