ID   GM04959
AC   CVCL_AA43
DR   CLO; CLO_0025586
DR   Coriell; GM04959
DR   Wikidata; Q54838786
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:5959; ELP1; Simple; c.2204+6T>C (2507+6T>C) (IVS20+6T>C) (Ex20del); ClinVar=VCV000006085; Zygosity=Homozygous (Coriell=GM04959).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84706; Familial dysautonomia
DI   ORDO; Orphanet_1764; Familial dysautonomia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_AA44 ! GM04960
SX   Female
AG   10Y
CA   Finite cell line
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 9
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