ID   GM22129
AC   CVCL_BU13
DR   Coriell; GM22129
DR   Wikidata; Q54852366
CC   Sequence variation: Mutation; HGNC; HGNC:11577; TAFAZZIN; Simple; c.109+5G>A (IVS1+5G>A); ClinVar=VCV001073013; Zygosity=Hemizygous; Note=Splicing mutation (Coriell=GM22129).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84585; Barth syndrome
DI   ORDO; Orphanet_111; Barth syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   11Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 14
//