ID   BTH-H
AC   CVCL_ZW17
SY   BTHH
DR   Wikidata; Q102113647
RX   PubMed=24813252;
CC   Sequence variation: Mutation; HGNC; HGNC:11577; TAFAZZIN; Simple; p.Asp173Thrfs*11 (c.517delG); ClinVar=VCV001704478; Zygosity=Hemizygous (PubMed=24813252).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84585; Barth syndrome
DI   ORDO; Orphanet_111; Barth syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Adult
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 19-12-24; Version: 8
//
RX   PubMed=24813252; DOI=10.1038/nm.3545; PMCID=PMC4172922;
RA   Wang G., McCain M.L., Yang L.-H., He A.-B., Pasqualini F.S., Agarwal A.,
RA   Yuan H.-Y., Jiang D.-W., Zhang D.-H., Zangi L., Geva J., Roberts A.E.,
RA   Ma Q., Ding J., Chen J.-H., Wang D.-Z., Li K., Wang J.-W.,
RA   Wanders R.J.A., Kulik W., Vaz F.M., Laflamme M.A., Murry C.E.,
RA   Chien K.R., Kelley R.I., Church G.M., Parker K.K., Pu W.T.;
RT   "Modeling the mitochondrial cardiomyopathy of Barth syndrome with
RT   induced pluripotent stem cell and heart-on-chip technologies.";
RL   Nat. Med. 20:616-623(2014).
//