ID   GM11576
AC   CVCL_H551
DR   CLO; CLO_0021225
DR   Coriell; GM11576
DR   Wikidata; Q54845162
RX   CelloPub=CLPUB00447;
CC   Population: Caucasian; German.
CC   Sequence variation: Mutation; HGNC; HGNC:4976; HLCS; Simple; c.1519+5G>A (IVS10+5G>A); ClinVar=VCV000001912; Zygosity=Heterozygous (Coriell=GM11576).
CC   Sequence variation: Mutation; HGNC; HGNC:4976; HLCS; Simple; p.Leu514Pro; Zygosity=Heterozygous (Coriell=GM11576).
CC   Derived from site: In situ; Amniotic fluid; UBERON=UBERON_0000173.
DI   NCIt; C98842; Holocarboxylase synthetase deficiency
DI   ORDO; Orphanet_79242; Holocarboxylase synthetase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   16FW
CA   Finite cell line
DT   Created: 11-02-13; Last updated: 19-12-24; Version: 16
//
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).
//