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Cellosaurus GM10642 (CVCL_HQ04)

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Cell line name GM10642
Accession CVCL_HQ04
Resource Identification Initiative To cite this cell line use: GM10642 (RRID:CVCL_HQ04)
Comments Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:403; ALDH3A2; Simple; p.Glu433Argfs*3 (c.1293_1294GA[2]) (c.1297_1298delGA); ClinVar=VCV000001641; Zygosity=Heterozygous (Coriell=GM10642).
Disease Sjogren-Larsson syndrome (NCIt: C85070)
Sjogren-Larsson syndrome (ORDO: Orphanet_816)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 5Y
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; GM10642
Cell line databases/resources CLO; CLO_0024559
Biological sample resources BioSample; SAMN00800126
Encyclopedic resources Wikidata; Q54844569
Entry history
Entry creation01-Dec-2016
Last entry update19-Dec-2024
Version number15