ID   MUi002-A
AC   CVCL_QX55
SY   MU002.A-hiPS
DR   hPSCreg; MUi002-A
DR   Wikidata; Q54907060
RX   PubMed=28213976;
CC   From: Mahidol University; Bangkok; Thailand.
CC   Sequence variation: Mutation; HGNC; 4827; HBB; Simple; p.Glu27Lys (c.79G>A) (E26K); ClinVar=VCV000015161; Zygosity=Heterozygous; Note=Hb E (PubMed=28213976).
CC   Sequence variation: Mutation; HGNC; 4827; HBB; Simple; c.316-197C>T (IVS2-654C>T); ClinVar=VCV000015458; Zygosity=Heterozygous (PubMed=28213976).
CC   Derived from site: In situ; Bone marrow; UBERON=UBERON_0002371.
CC   Cell type: Mesenchymal stem cell of bone marrow; CL=CL_0002540.
DI   NCIt; C34375; Beta thalassemia
DI   ORDO; Orphanet_231214; Beta-thalassemia major
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 15-11-17; Last updated: 29-06-23; Version: 10
//
RX   PubMed=28213976; DOI=10.1002/sctm.16-0121;
RA   Phanthong P., Borwornpinyo S., Kitiyanant N., Jearawiriyapaisarn N.,
RA   Nuntakarn L., Saetan J., Nualkaew T., Sa-ngiamsuntorn K.,
RA   Anurathapan U., Dinnyes A., Kitiyanant Y., Hongeng S.;
RT   "Enhancement of beta-globin gene expression in thalassemic IVS2-654
RT   induced pluripotent stem cell-derived erythroid cells by modified U7
RT   snRNA.";
RL   Stem Cells Transl. Med. 6:1059-1069(2017).
//