ID   GM22165
AC   CVCL_BU23
DR   Coriell; GM22165
DR   Wikidata; Q54852386
CC   Sequence variation: Mutation; HGNC; HGNC:11577; TAFAZZIN; Simple; c.110-2A>G (IVS1-2A>G); ClinVar=VCV000011109; Zygosity=Hemizygous; Note=Splice acceptor mutation (Coriell=GM22165).
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   6Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 14
//