ID   GM06966
AC   CVCL_0M39
SY   GM6966; GM 6966
DR   CLO; CLO_0036443
DR   Coriell; GM06966
DR   Wikidata; Q54842408
RX   CelloPub=CLPUB00447;
RX   CelloPub=CLPUB00720;
RX   PubMed=9792862;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Glu92Ter (c.274G>T); ClinVar=VCV000007186; Zygosity=Heterozygous (Coriell=GM06966).
CC   Sequence variation: Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Heterozygous (Coriell=GM06966).
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   NCIt; C129932; Nephropathic cystinosis
DI   ORDO; Orphanet_586; Cystic fibrosis
DI   ORDO; Orphanet_411629; Nephropathic infantile cystinosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   6Y
CA   Finite cell line
DT   Created: 10-04-15; Last updated: 19-12-24; Version: 17
//
RX   CelloPub=CLPUB00720;
RA   Greene, Arthur E.
RA   Mulivor, Richard A.
RT   "1986/1987 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 13th edition. October 1986.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 87-2011; pp.1-549; National Institutes of Health; Bethesda; USA (1986).
//
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   PubMed=9792862; DOI=10.1086/302118; PMCID=PMC1377545;
RA   Shotelersuk, Vorasuk
RA   Larson, David
RA   Anikster, Yair
RA   McDowell, Geraldine
RA   Lemons, Rosemary
RA   Bernardini, Isa
RA   Guo, Juan-Ru
RA   Thoene, Jess
RA   Gahl, William A.
RT   "CTNS mutations in an American-based population of cystinosis
RT   patients.";
RL   Am. J. Hum. Genet. 63:1352-1362(1998).
//