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Cellosaurus GM10641 (CVCL_N151)

[Text version]
Cell line name GM10641
Synonyms GM17305
Accession CVCL_N151
Resource Identification Initiative To cite this cell line use: GM10641 (RRID:CVCL_N151)
Comments Part of: Human variation panel.
Population: South American (Andes).
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:403; ALDH3A2; Simple; p.Ala314_Pro315delinsGlyAlaLysSerThrValGlyAla (c.941_943delCCCinsGGGCTAAAAGTACTGTTGGGG) (941-943delCCC+ins21bp); Zygosity=Homozygous (Coriell=GM10641).
Disease Sjogren-Larsson syndrome (NCIt: C85070)
Sjogren-Larsson syndrome (ORDO: Orphanet_816)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 4Y
Category Finite cell line
Publications

CLPUB00447
Mulivor R.A., Suchy S.F.
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; GM10641
Coriell; GM17305
Cell line databases/resources CLO; CLO_0013314
CLO; CLO_0024560
Biological sample resources BioSample; SAMN00800124
Encyclopedic resources Wikidata; Q54844568
Entry history
Entry creation05-Nov-2013
Last entry update19-Dec-2024
Version number15