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Cellosaurus GM01795 (CVCL_1D26)

[Text version]
Cell line name GM01795
Synonyms GM-1795; GM01795A
Accession CVCL_1D26
Resource Identification Initiative To cite this cell line use: GM01795 (RRID:CVCL_1D26)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 12762; WFS1; Simple; p.Arg611His (c.1832G>A); ClinVar=VCV000045442; Zygosity=Heterozygous (from autologous cell line GM01610).
  • Mutation; HGNC; 12762; WFS1; Simple; p.Trp648Ter (c.1944G>A); ClinVar=VCV000004511; Zygosity=Heterozygous (from autologous cell line GM01610).
  • Mutation; HGNC; 12762; WFS1; Simple; p.Gly695Val (c.2084G>T); ClinVar=VCV000004510; Zygosity=Heterozygous (from autologous cell line GM01610).
Disease Wolfram syndrome (NCIt: C35133)
Wolfram syndrome (ORDO: Orphanet_3463)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_1D23 ! GM01610
Sex of cell Female
Age at sampling 13Y
Category Transformed cell line
Publications

DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977)

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

Cross-references
Cell line collections (Providers) Coriell; GM01795
Cell line databases/resources CLO; CLO_0031023
Biological sample resources BioSample; SAMN00807181
Encyclopedic resources Wikidata; Q54837084
Entry history
Entry creation08-Jul-2015
Last entry update29-Jun-2023
Version number15