ID   BCHSCTi001-A
AC   CVCL_B0P8
SY   HA-iPSC
DR   hPSCreg; BCHSCTi001-A
DR   Wikidata; Q108819921
RX   PubMed=34496342;
CC   From: Department of Hematopoietic Stem Cell Tranplatation, Beijing Children's Hospital; Beijing; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 3546; F8; Simple; p.Arg391Cys (c.1171C>T); ClinVar=VCV000010125; Zygosity=Hemizygous (PubMed=34496342).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C27146; Hemophilia A
DI   ORDO; Orphanet_98878; Hemophilia A
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   3Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=34496342; DOI=10.1016/j.scr.2021.102491;
RA   Zheng J., Li G., Qin M.-Q.;
RT   "Generation of induced pluripotent stem cell, BCHSCTi001-A, derived
RT   from a hemophilia A patient with F8 (p. R391C) mutation.";
RL   Stem Cell Res. 56:102491-102491(2021).
//