Cellosaurus logo
expasy logo

Cellosaurus GM05788 (CVCL_7439)

[Text][XML][JSON]
Cell line name GM05788
Accession CVCL_7439
Resource Identification Initiative To cite this cell line use: GM05788 (RRID:CVCL_7439)
Comments Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:2860; DHCR7; Simple; p.Gly138Val (c.413G>T); Zygosity=Heterozygous (Coriell=GM05788).
  • Mutation; HGNC; HGNC:2860; DHCR7; Simple; p.His405Tyr (c.1213C>T); Zygosity=Heterozygous (Coriell=GM05788).
Disease Smith-Lemli-Opitz syndrome (NCIt: C85071)
Smith-Lemli-Opitz syndrome (ORDO: Orphanet_818)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_7440 ! GM05789
Sex of cell Female
Age at sampling 1Y
Category Finite cell line
Publications

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
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; GM05788
Cell line databases/resources CLO; CLO_0024661
Encyclopedic resources Wikidata; Q54841937
Entry history
Entry creation04-Apr-2012
Last entry update19-Dec-2024
Version number14