ID   GM25268
AC   CVCL_IN36
DR   Coriell; GM25268
DR   Wikidata; Q54853862
CC   Population: Caucasian; Mennonite.
CC   Sequence variation: Mutation; HGNC; HGNC:10990; SLC25A4; Simple; p.Gln175Argfs*38 (c.523delC); ClinVar=VCV000215174; Zygosity=Homozygous (Coriell=GM25268).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C129977; Mitochondrial DNA depletion syndrome 12
DI   ORDO; Orphanet_1369; Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   16Y
CA   Transformed cell line
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 12
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