ID   GM09295
AC   CVCL_AA73
DR   CLO; CLO_0011882
DR   Coriell; GM09295
DR   Wikidata; Q54843655
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=Homozygous; Note=Splice donor mutation (Coriell=GM09295).
CC   Sequence variation: Mutation; HGNC; 4177; GBA1; Simple; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Heterozygous (Coriell=GM09295).
CC   Sequence variation: Mutation; HGNC; 4878; HEXA; Simple; p.Arg247Trp (c.739C>T); ClinVar=VCV000003922; Zygosity=Homozygous (Coriell=GM09295).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84706; Familial dysautonomia
DI   ORDO; Orphanet_1764; Familial dysautonomia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   23Y
CA   Transformed cell line
DT   Created: 23-02-16; Last updated: 30-01-24; Version: 15
//
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).
//