ID   IGIBi001-A
AC   CVCL_WR00
SY   SCP28
DR   BioSamples; SAMEA5780087
DR   hPSCreg; IGIBi001-A
DR   SKIP; SKIP005534
DR   Wikidata; Q94314634
RX   PubMed=31255831;
CC   From: Institute of Genomics and Integrative Biology (CSIR-IGIB); New Delhi; India.
CC   Population: Indian.
CC   Sequence variation: Mutation; HGNC; 4827; HBB; Simple; p.Glu7Val (c.20A>T) (E6V); ClinVar=VCV000015333; Zygosity=Homozygous (PubMed=31255831).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C34383; Sickle cell disease
DI   ORDO; Orphanet_232; Sickle cell anemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   17Y
CA   Induced pluripotent stem cell
DT   Created: 05-07-19; Last updated: 29-06-23; Version: 9
//
RX   PubMed=31255831; DOI=10.1016/j.scr.2019.101484;
RA   Bhargava N., Jaitly S., Goswami S.G., Jain S., Chakraborty D.,
RA   Ramalingam S.;
RT   "Generation and characterization of induced pluripotent stem cell line
RT   (IGIBi001-A) from a sickle cell anemia patient with homozygous
RT   beta-globin mutation.";
RL   Stem Cell Res. 39:101484-101484(2019).
//