ID   SU-iPS-1
AC   CVCL_E4G8
RX   PubMed=31495903;
CC   From: The Third Affiliated Hospital of Guangzhou Medical College; Guangzhou; China.
CC   Sequence variation: Mutation; HGNC; HGNC:4824; HBA2; Simple; p.Ter143Glnext*32 (c.427T>C); ClinVar=VCV000015624; Zygosity=Homozygous; Note=Hb Constant Spring (PubMed=31495903).
CC   Omics: Deep exome analysis.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=31495903
ST   Amelogenin: X,Y
ST   CSF1PO: 10,12
ST   D13S317: 8,10
ST   D16S539: 11
ST   D18S51: 11,14
ST   D19S433: 12,15.2
ST   D21S11: 29,32.2
ST   D2S1338: 23
ST   D3S1358: 16,18
ST   D5S818: 11,12
ST   D7S820: 11,12
ST   D8S1179: 10,12
ST   FGA: 24
ST   TH01: 9,9.3
ST   TPOX: 11
ST   vWA: 16,17
DI   NCIt; C34368; Alpha thalassemia
DI   ORDO; Orphanet_846; Alpha-thalassemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   6M
CA   Induced pluripotent stem cell
DT   Created: 19-12-24; Last updated: 19-12-24; Version: 1
//
RX   PubMed=31495903; DOI=10.1007/s00277-019-03763-2; PMCID=PMC6900276;
RA   Xie Y.-J., Xie Y.-H., Chen Y.-C., Li D.-Z., Wang D., Song B., Yang Y.,
RA   Lu D., Xue Y.-T., Xiong Z.-Y., Liu N.-Q., Chen D.-Y., Sun X.-F.;
RT   "CRISPR/Cas9 gene correction of HbH-CS thalassemia-induced pluripotent
RT   stem cells.";
RL   Ann. Hematol. 98:2661-2671(2019).
//