ID   GM04994
AC   CVCL_Y109
DR   CLO; CLO_0025651
DR   Coriell; GM04994
DR   Wikidata; Q54838798
RX   CelloPub=CLPUB00447;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 57; ABCC6; Simple; p.Arg1141Ter (c.3421C>T); ClinVar=VCV000006559; Zygosity=Heterozygous (Coriell=GM04994).
CC   Sequence variation: Mutation; HGNC; 57; ABCC6; Simple; p.Arg1164Ter (c.3490C>T); ClinVar=VCV000006572; Zygosity=Heterozygous (Coriell=GM04994).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C85036; Pseudoxanthoma elasticum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   60Y
CA   Finite cell line
DT   Created: 07-11-14; Last updated: 30-01-24; Version: 14
//
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).
//