ID   WMUi002-A
AC   CVCL_YX76
SY   TAZ-UiPSC
DR   hPSCreg; WMUi002-A
DR   Wikidata; Q98134970
RX   PubMed=32619718;
CC   From: Wenzhou Medical University; Wenzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 11577; TAFAZZIN; Simple; p.Asp173Thrfs*11 (c.517delG); ClinVar=VCV001704478; Zygosity=Hemizygous (PubMed=32619718).
CC   Derived from site: In situ; Urine; UBERON=UBERON_0001088.
ST   Source(s): PubMed=32619718
ST   Amelogenin: X,Y
ST   D12S391: 17,20
ST   D13S317: 9,11
ST   D16S539: 10,13
ST   D18S51: 18,20
ST   D19S433: 14,15.2
ST   D21S11: 30,33.2
ST   D2S441: 10,11
ST   D3S1358: 16
ST   D5S818: 12,13
ST   D6S1043: 19
ST   D7S820: 11
ST   D8S1179: 13,16
ST   FGA: 21,22
ST   Penta E: 12,20
ST   vWA: 16
DI   NCIt; C84585; Barth syndrome
DI   ORDO; Orphanet_111; Barth syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   6Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 29-06-23; Version: 7
//
RX   PubMed=32619718; DOI=10.1016/j.scr.2020.101886;
RA   Guo X.-L., Wang L., Chen K.-X., Song S.-Y., Wang X.-G., Gu X.-H.,
RA   Niu C., Chu M.-P.;
RT   "Generation of urine-derived iPS cell line via a non-integrative
RT   method from a Barth syndrome patient with TAZ gene mutation.";
RL   Stem Cell Res. 47:101886-101886(2020).
//