ID   MUSIi008-A
AC   CVCL_UL50
SY   KLF1_2-iPSC
DR   hPSCreg; MUSIi008-A
DR   Wikidata; Q95991527
RX   PubMed=30605837;
CC   From: Faculty of Medicine Siriraj Hospital, Mahidol University; Bangkok; Thailand.
CC   Population: Southeast Asian; Thai.
CC   Sequence variation: Mutation; HGNC; 6345; KLF1; Simple; p.Gly176Argfs*3 (c.519_525dupCGGCGCC) (c.525_526insCGGCGCC); ClinVar=VCV000100799; Zygosity=Heterozygous (PubMed=30605837).
CC   Sequence variation: Mutation; HGNC; 6345; KLF1; Simple; p.Ala298Pro (c.892G>C); ClinVar=VCV000056891; Zygosity=Heterozygous (PubMed=30605837).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C157148; Congenital dyserythropoietic anemia type IV
DI   ORDO; Orphanet_293825; Congenital dyserythropoietic anemia type IV
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   1Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 29-06-23; Version: 9
//
RX   PubMed=30605837; DOI=10.1016/j.scr.2018.09.021;
RA   Potirat P., Wattanapanitch M., Viprakasit V., Kheolamai P.,
RA   Issaragrisil S.;
RT   "An integration-free iPSC line (MUSIi008-A) derived from a patient with
RT   severe hemolytic anemia carrying compound heterozygote mutations in KLF1
RT   gene for disease modeling.";
RL   Stem Cell Res. 34:101344-101344(2019).
//