ID   GM05788
AC   CVCL_7439
DR   CLO; CLO_0024661
DR   Coriell; GM05788
DR   Wikidata; Q54841937
RX   CelloPub=CLPUB00447;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 2860; DHCR7; Simple; p.Gly138Val (c.413G>T); Zygosity=Heterozygous (Coriell=GM05788).
CC   Sequence variation: Mutation; HGNC; 2860; DHCR7; Simple; p.His405Tyr (c.1213C>T); Zygosity=Heterozygous (Coriell=GM05788).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C85071; Smith-Lemli-Opitz syndrome
DI   ORDO; Orphanet_818; Smith-Lemli-Opitz syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_7440 ! GM05789
SX   Female
AG   1Y
CA   Finite cell line
DT   Created: 04-04-12; Last updated: 30-01-24; Version: 13
//
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).
//