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Cellosaurus GM05789 (CVCL_7440)

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Cell line name GM05789
Accession CVCL_7440
Resource Identification Initiative To cite this cell line use: GM05789 (RRID:CVCL_7440)
Comments Population: Caucasian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:2860; DHCR7; Simple; p.Gly138Val (c.413G>T); Zygosity=Heterozygous (Coriell=GM05789).
  • Mutation; HGNC; HGNC:2860; DHCR7; Simple; p.His405Tyr (c.1213C>T); Zygosity=Heterozygous (Coriell=GM05789).
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_7439 ! GM05788
Sex of cell Female
Age at sampling 1Y
Category Transformed 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; GM05789
Cell line databases/resources CLO; CLO_0024662
Encyclopedic resources Wikidata; Q54841938
Entry history
Entry creation04-Apr-2012
Last entry update19-Dec-2024
Version number16