ID   GM16771
AC   CVCL_AB21
DR   CLO; CLO_0018440
DR   Coriell; GM16771
DR   Wikidata; Q54848731
CC   Population: Jewish; Ashkenazi.
CC   Sequence variation: Mutation; HGNC; HGNC:5959; ELP1; Simple; c.2204+6T>C (2507+6T>C) (IVS20+6T>C) (Ex20del); ClinVar=VCV000006085; Zygosity=Homozygous; Note=Splice donor mutation (Coriell=GM16771).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Donor information: Established from monozygotic twin of GM16772 (Cellosaurus=CVCL_AB22).
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   Female
AG   7Y
CA   Transformed cell line
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 17
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