ID   GM04632
AC   CVCL_AA28
DR   CLO; CLO_0018971
DR   Coriell; GM04632
DR   Wikidata; Q54838611
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)
SX   Male
AG   58Y
CA   Finite cell line
DT   Created: 23-02-16; Last updated: 29-06-23; Version: 11
//
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 misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//