ID   GM23986
AC   CVCL_BW46
DR   Coriell; GM23986
DR   Wikidata; Q54853481
CC   Sequence variation: Mutation; HGNC; HGNC:11577; TAFAZZIN; Simple; p.Met185Val (c.553A>G); ClinVar=VCV002138792; Zygosity=Hemizygous (Coriell=GM23986).
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   2Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 11
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