ID   GM04634
AC   CVCL_M950
DR   CLO; CLO_0018975
DR   Coriell; GM04634
DR   Wikidata; Q54838612
RX   CelloPub=CLPUB00447;
CC   Population: Jewish; Ashkenazi.
CC   Sequence variation: 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).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_M951 ! GM04635
SX   Female
AG   53Y
CA   Finite cell line
DT   Created: 05-11-13; Last updated: 29-06-23; Version: 12
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//