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Cellosaurus GM08391 (CVCL_UT47)

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Cell line name GM08391
Synonyms GM08391A
Accession CVCL_UT47
Resource Identification Initiative To cite this cell line use: GM08391 (RRID:CVCL_UT47)
Comments Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:795; ATM; Simple; p.Asp1548Thrfs*14 (c.4638_4641GATA[1]) (c.4642_4645delGATA); ClinVar=VCV000232070; Zygosity=Heterozygous (from autologous cell line GM08436).
  • Mutation; HGNC; HGNC:795; ATM; Simple; p.Glu1978Ter (c.5932G>T); ClinVar=VCV000127414; Zygosity=Heterozygous (from autologous cell line GM08436).
Disease Ataxia telangiectasia syndrome (NCIt: C2887)
Ataxia telangiectasia (ORDO: Orphanet_100)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_F208 ! GM08436
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; GM08391 - Discontinued
Encyclopedic resources Wikidata; Q93798914
Entry history
Entry creation25-Feb-2019
Last entry update19-Dec-2024
Version number12