ID   GM28478
AC   CVCL_D3AD
DR   Coriell; GM28478
DR   Wikidata; Q127380918
CC   Population: Caucasian; English.
CC   Sequence variation: Mutation; HGNC; HGNC:11581; TBCD; Simple; p.Arg323Ter (c.967C>T); ClinVar=VCV000692021; Zygosity=Heterozygous (Coriell=GM28478).
CC   Sequence variation: Mutation; HGNC; HGNC:11581; TBCD; Simple; p.Thr1046Lys (c.3137C>A); ClinVar=VCV002504395; Zygosity=Heterozygous (Coriell=GM28478).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C202602; Early-onset progressive encephalopathy with brain atrophy and thin corpus callosum
DI   ORDO; Orphanet_496641; Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   9M
CA   Transformed cell line
DT   Created: 30-01-24; Last updated: 19-12-24; Version: 3
//