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Cellosaurus GM10653 (CVCL_AT11)

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Cell line name GM10653
Accession CVCL_AT11
Resource Identification Initiative To cite this cell line use: GM10653 (RRID:CVCL_AT11)
Comments Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:4189; GCDH; Simple; c.127+48T>C; ClinVar=VCV000255394; Zygosity=Heterozygous (Coriell=GM10653).
  • Mutation; HGNC; HGNC:4189; GCDH; Simple; p.Met191Thr (c.572T>C); ClinVar=VCV000198396; Zygosity=Heterozygous (Coriell=GM10653).
Disease Glutaric acidemia type 1 (NCIt: C99101)
Glutaryl-CoA dehydrogenase deficiency (ORDO: Orphanet_25)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 12Y
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; GM10653
Cell line databases/resources CLO; CLO_0024579
Biological sample resources BioSample; SAMN00800136
Encyclopedic resources Wikidata; Q54844574
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number15