ID   GM04320
AC   CVCL_0M23
SY   GM 4320
DR   CLO; CLO_0019529
DR   Coriell; GM04320
DR   Wikidata; Q54838481
RX   CelloPub=CLPUB00447;
RX   PubMed=2445735;
RX   PubMed=25772471;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Ile507del (c.1516_1518ATC[1]) (c.1519_1521delATC); ClinVar=VCV000007106; Zygosity=Heterozygous (PubMed=25772471).
CC   Sequence variation: Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Heterozygous (PubMed=25772471).
CC   Caution: Was originally thought to be homozygous for CFTR p.Phe508del and is still described as such in Coriell.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C2975; Cystic fibrosis
DI   ORDO; Orphanet_586; Cystic fibrosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   17Y
CA   Finite cell line
DT   Created: 10-04-15; Last updated: 19-12-24; Version: 16
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RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.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   PubMed=2445735; DOI=10.1016/S0021-9258(18)47730-7;
RA   Lin P.-Y., Gruenstein E.;
RT   "Identification of a defective cAMP-stimulated Cl- channel in cystic
RT   fibrosis fibroblasts.";
RL   J. Biol. Chem. 262:15345-15347(1987).
//
RX   PubMed=25772471; DOI=10.1016/j.stemcr.2015.02.005; PMCID=PMC4400651;
RA   Crane A.M., Kramer P., Bui-Griffith J.H., Chung W.J., Li X.S.,
RA   Gonzalez-Garay M.L., Hawkins F., Liao W., Mora D., Choi S., Wang J.-B.,
RA   Sun H.C., Paschon D.E., Guschin D.Y., Gregory P.D., Kotton D.N.,
RA   Holmes M.C., Sorscher E.J., Davis B.R.;
RT   "Targeted correction and restored function of the CFTR gene in cystic
RT   fibrosis induced pluripotent stem cells.";
RL   Stem Cell Reports 4:569-577(2015).
//