ID   MUi017-A
AC   CVCL_QX57
DR   hPSCreg; MUi017-A
DR   Wikidata; Q54907065
RX   PubMed=28395746;
CC   From: Mahidol University; Bangkok; Thailand.
CC   Population: Southeast Asian; Thai.
CC   Sequence variation: Mutation; HGNC; 4824; HBA2; Simple; p.Ter143Glnext*32 (c.427T>C); ClinVar=VCV000015624; Zygosity=Homozygous; Note=Hb Constant Spring (PubMed=28395746).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=28395746
ST   Amelogenin: X
ST   CSF1PO: 12
ST   D13S317: 9,11
ST   D16S539: 11
ST   D18S51: 15,16
ST   D19S433: 15.2
ST   D21S11: 29,32.2
ST   D2S1338: 19
ST   D3S1358: 16
ST   D5S818: 11,12
ST   D7S820: 10,12
ST   D8S1179: 10,12
ST   FGA: 22,23
ST   TH01: 9,10
ST   TPOX: 8
ST   vWA: 17,18
DI   NCIt; C34368; Alpha thalassemia
DI   ORDO; Orphanet_846; Alpha-thalassemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   52Y
CA   Induced pluripotent stem cell
DT   Created: 15-11-17; Last updated: 29-06-23; Version: 9
//
RX   PubMed=28395746; DOI=10.1016/j.scr.2017.02.014;
RA   Wongkummool W., Maneepitasut W., Munkongdee T., Tong-Ngam P.,
RA   Tangprasittipap A., Svasti S., Kitiyanant N., Paiboonsukwong K.,
RA   Fucharoen S., Tubsuwan A.;
RT   "Derivation of the human induced pluripotent stem cell line MUi017-A
RT   from a patient with homozygous hemoglobin Constant Spring.";
RL   Stem Cell Res. 20:84-87(2017).
//