ID   HNMUi008-A
SY   iPS-UC2419
DR   BioSamples; SAMEA7484342
DR   hPSCreg; HNMUi008-A
DR   Wikidata; Q102114139
RX   PubMed=33039806;
CC   From: Hainan Medical University; Haikou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 4827; HBB; Simple; p.Phe42Leufs*19 (c.126_129delCTTT) (c.125_128delTCTT) (CD 41/42); ClinVar=VCV000015417; Zygosity=Heterozygous (PubMed=33039806).
CC   Derived from site: In situ; Urine; UBERON=UBERON_0001088.
DI   NCIt; C34375; Beta thalassemia
DI   ORDO; Orphanet_231214; Beta-thalassemia major
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   29Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 29-06-23; Version: 5
RX   PubMed=33039806; DOI=10.1016/j.scr.2020.102014;
RA   Long P., Wang Z., Yang H.-M., Liu Z., Wu B.-Y., Zhong G.-B.,
RA   Chen J.-X., Sun C., Wang F., Zhou Y., Sun F., Li Q., Ma Y.-L.;
RT   "Generation of nine iPSC lines (HNMUi002-A, HNMUi003-A, HNMUi004-A,
RT   HNMUi005-A, HNMUi006-A, HNMUi007-A, HNMUi008-A, HNMUi009-A,
RT   HNMUi010-A) from three Chinese families with thalassemia.";
RL   Stem Cell Res. 49:102014-102014(2020).