ID   GM04664
AC   CVCL_F115
DR   CLO; CLO_0019008
DR   Coriell; GM04664
DR   Wikidata; Q54838621
RX   CelloPub=CLPUB00447;
CC   Population: Caucasian.
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 GM04663).
CC   Cell type: Fibroblast; CL=CL_0000057.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   32Y
CA   Finite cell line
DT   Created: 22-10-12; Last updated: 29-06-23; Version: 10
//
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).
//