ID   IGIBi002-A [2021]
AC   CVCL_A4WZ
SY   BTP8
DR   hPSCreg; IGIBi002-A
DR   Wikidata; Q107115435
RX   PubMed=33338925;
CC   From: Institute of Genomics and Integrative Biology (CSIR-IGIB); New Delhi; India.
CC   Population: Indian.
CC   Sequence variation: Mutation; HGNC; 4827; HBB; Simple; c.92+5G>C (IVS1,G>C,+5) (IVS1-5G>C); ClinVar=VCV000015447; Zygosity=Homozygous (PubMed=33338925).
CC   Caution: Two different cell lines were established by CSIR-IGIB with the same IGIBi002-A designation.
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   4Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=33338925; DOI=10.1016/j.scr.2020.102124;
RA   Thakur P., Bhargava N., Jaitly S., Gupta P., Kumar Bhattacharya S.,
RA   Padma G., Kondaveeti S., Jain S., Ramalingam S.;
RT   "Establishment and characterization of induced pluripotent stem cell
RT   line (IGIBi002-A) from a beta-thalassemia patient with IVS1-5 mutation
RT   by non-integrating reprogramming approach.";
RL   Stem Cell Res. 50:102124-102124(2021).
//