ID   GM22147
AC   CVCL_BU17
DR   Coriell; GM22147
DR   Wikidata; Q54852377
CC   Sequence variation: Mutation; HGNC; HGNC:11577; TAFAZZIN; Simple; p.Lys37Ser_Tyr38ins18 (c.109+5G>C) (IVS1+5G>C); ClinVar=VCV000011106; Zygosity=Hemizygous (Coriell=GM22147).
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   4Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 11
//