Cellosaurus logo
expasy logo

Cellosaurus GM04634 (CVCL_M950)

[Text version]
Cell line name GM04634
Accession CVCL_M950
Resource Identification Initiative To cite this cell line use: GM04634 (RRID:CVCL_M950)
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; 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)
Originate from same individual CVCL_M951 ! GM04635
Sex of cell Female
Age at sampling 53Y
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 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; GM04634
Cell line databases/resources CLO; CLO_0018975
Encyclopedic resources Wikidata; Q54838612
Entry history
Entry creation05-Nov-2013
Last entry update29-Jun-2023
Version number12