ID   NCCSi009-A
AC   CVCL_YM51
SY   BT1/18
DR   hPSCreg; NCCSi009-A
DR   SKIP; SKIP005728
DR   Wikidata; Q95992690
RX   PubMed=32278313;
CC   From: National Centre for Cell Science; Pune; India.
CC   Population: Indian.
CC   Sequence variation: Mutation; HGNC; 4827; HBB; Simple; p.Ser10Valfs*14 (c.27dupG) (c.27_28insG) (cd8/9+G); ClinVar=VCV000036308; Zygosity=Homozygous (PubMed=32278313).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C34375; Beta thalassemia
DI   ORDO; Orphanet_231214; Beta-thalassemia major
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   2Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 29-06-23; Version: 6
//
RX   PubMed=32278313; DOI=10.1016/j.scr.2020.101772;
RA   Tembe S., Fernandes S., Khan N., Melinkeri S., Kale V., Limaye L.S.;
RT   "Establishment of human iPSC line from patient of Indian ethnicity
RT   carrying homozygous CD8/9 (+G) beta thalassemia mutation.";
RL   Stem Cell Res. 44:101772-101772(2020).
//