ID   CBTCi007-A
AC   CVCL_UD86
SY   EB13
DR   hPSCreg; CBTCi007-A
DR   Wikidata; Q93444613
RX   PubMed=30296668;
CC   From: Centro de Biotecnologia e Terapia Celular, Hospital Sao Rafael; Salvador; Brazil.
CC   Population: Afro-Brazilian.
CC   Sequence variation: Mutation; HGNC; 4827; HBB; Simple; p.Glu7Val (c.20A>T) (E6V); ClinVar=VCV000015333; Zygosity=Homozygous (PubMed=30296668).
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   Female
AG   36Y
CA   Induced pluripotent stem cell
DT   Created: 13-11-18; Last updated: 29-06-23; Version: 9
//
RX   PubMed=30296668; DOI=10.1016/j.scr.2018.09.011;
RA   Martins G.L.S., Paredes B.D., Azevedo C.M., Sampaio G.L.A.,
RA   Nonaka C.K.V., Cavalcante B.R.R., da Silva K.N., Pereira C.S.E.,
RA   Soares M.B.P., dos Santos R.R., de Freitas Souza B.S.;
RT   "Generation of integration-free iPS cell lines from three sickle cell
RT   disease patients from the state of Bahia, Brazil.";
RL   Stem Cell Res. 33:10-14(2018).
//