ID   GM26045
AC   CVCL_VP81
DR   Coriell; GM26045
DR   Wikidata; Q93932334
CC   Population: Caucasian; Amish.
CC   Sequence variation: Mutation; HGNC; HGNC:21701; BRAT1; Simple; p.Val214Glyfs*189 (c.638dupA) (c.638_639insA); ClinVar=VCV000031199; Zygosity=Homozygous (Coriell=GM26045).
CC   Derived from site: In situ; Thigh, skin; UBERON=UBERON_0004262.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C154618; Lethal neonatal rigidity and multifocal seizure syndrome
DI   ORDO; Orphanet_435845; Lethal neonatal spasticity-epileptic encephalopathy syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   24D
CA   Finite cell line
DT   Created: 07-09-18; Last updated: 19-12-24; Version: 10
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