ID   MUi009-A
AC   CVCL_QX56
DR   hPSCreg; MUi009-A
DR   Wikidata; Q54907061
RX   PubMed=28395745;
CC   From: Mahidol University; Bangkok; Thailand.
CC   Sequence variation: Mutation; HGNC; 4827; HBB; Simple; p.Phe42Leufs*19 (c.126_129delCTTT) (c.125_128delTCTT) (CD 41/42); ClinVar=VCV000015417; Zygosity=Homozygous (PubMed=28395745).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=28395745
ST   Amelogenin: X,Y
ST   CSF1PO: 12,13
ST   D13S317: 8
ST   D16S539: 9,13
ST   D18S51: 15,16
ST   D19S433: 15,16.2
ST   D21S11: 31.2,32
ST   D2S1338: 19,23
ST   D3S1358: 15,17
ST   D5S818: 11,12
ST   D7S820: 11
ST   D8S1179: 15,17
ST   FGA: 19,24
ST   TH01: 9,10.3
ST   TPOX: 9,11
ST   vWA: 17
DI   NCIt; C34368; Alpha thalassemia
DI   NCIt; C34375; Beta thalassemia
DI   ORDO; Orphanet_846; Alpha-thalassemia
DI   ORDO; Orphanet_231214; Beta-thalassemia major
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   32Y
CA   Induced pluripotent stem cell
DT   Created: 15-11-17; Last updated: 29-06-23; Version: 10
//
RX   PubMed=28395745; DOI=10.1016/j.scr.2017.02.012;
RA   Wongkummool W., Maneepitasut W., Tong-Ngam P., Tangprasittipap A.,
RA   Munkongdee T., Boonchuay C., Svasti S., Kitiyanant N.,
RA   Paiboonsukwong K., Fucharoen S., Tubsuwan A.;
RT   "Establishment of MUi009 -- a human induced pluripotent stem cells from
RT   a 32 year old male with homozygous beta0-thalassemia
RT   coinherited with heterozygous alpha-thalassemia 2.";
RL   Stem Cell Res. 20:80-83(2017).
//