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Cellosaurus GM04632 (CVCL_AA28)

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Cell line name GM04632
Accession CVCL_AA28
Resource Identification Initiative To cite this cell line use: GM04632 (RRID:CVCL_AA28)
Comments Population: Jewish; Ashkenazi.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 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 GM02343).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 58Y
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; GM04632
Cell line databases/resources CLO; CLO_0018971
Encyclopedic resources Wikidata; Q54838611
Entry history
Entry creation23-Feb-2016
Last entry update19-Dec-2024
Version number12