ID   SDQLCHi013-A
AC   CVCL_YJ23
DR   hPSCreg; SDQLCHi013-A
DR   Wikidata; Q98129474
RX   PubMed=31775088;
CC   From: Qilu Children's Hospital of Shandong University; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 986; BCKDHA; Simple; p.Thr211Met (c.632C>T); ClinVar=VCV000093365; Zygosity=Heterozygous (PubMed=31775088).
CC   Sequence variation: Mutation; HGNC; 986; BCKDHA; Simple; p.Leu427_Ala428delinsPro (c.1280_1282delTGG); ClinVar=VCV000557742; Zygosity=Heterozygous (PubMed=31775088).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=31775088
ST   Amelogenin: X,Y
ST   CSF1PO: 10,11
ST   D12S391: 17,18
ST   D13S317: 9,10
ST   D16S539: 9,11
ST   D18S51: 16,19
ST   D19S433: 14
ST   D21S11: 30
ST   D2S1338: 18,19
ST   D3S1358: 15,16
ST   D5S818: 10
ST   D6S1043: 18,20
ST   D7S820: 8,10
ST   D8S1179: 12,15
ST   FGA: 21,23
ST   Penta D: 11,13
ST   Penta E: 12,16
ST   TH01: 9
ST   TPOX: 8,11
ST   vWA: 16,18
DI   NCIt; C34806; Maple syrup urine disease
DI   ORDO; Orphanet_511; Maple syrup urine disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   7D
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 29-06-23; Version: 7
//
RX   PubMed=31775088; DOI=10.1016/j.scr.2019.101585;
RA   Zhang H.-Y., Ma Y.-Y., Li X.-M., Yang X.-M., Li Y., Guan J.-Y.,
RA   Dong R., Gai Z.-T., Liu Y.;
RT   "An integration-free iPSC line (SDQLCHi013-A) derived from a patient
RT   with maple syrup urine disease carrying compound heterozygote
RT   mutations in BCKDHA gene.";
RL   Stem Cell Res. 41:101585-101585(2019).
//