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Cellosaurus GM04665 (CVCL_AA33)

[Text version]
Cell line name GM04665
Accession CVCL_AA33
Resource Identification Initiative To cite this cell line use: GM04665 (RRID:CVCL_AA33)
Comments Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 5959; ELP1; Simple; c.2204+6T>C (2507+6T>C) (IVS20+6T>C) (Ex20del); ClinVar=VCV000006085; Zygosity=Heterozygous; Note=Splice donor mutation (from familial inference of GM04663).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 30Y
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) 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; GM04665
Cell line databases/resources CLO; CLO_0019010
Encyclopedic resources Wikidata; Q54838622
Entry history
Entry creation23-Feb-2016
Last entry update29-Jun-2023
Version number8