ID   CHOPi008-A
AC   CVCL_C1NU
SY   TMD145.T21.G1S
DR   BioSamples; SAMEA111510065
DR   hPSCreg; CHOPi008-A
DR   Wikidata; Q114310960
RX   PubMed=37084616;
CC   From: Children's Hospital of Philadelphia; Philadelphia; USA.
CC   Population: Caucasian.
CC   Karyotypic information: 47,XY,+21 (PubMed=37084616).
CC   Sequence variation: Mutation; HGNC; 4170; GATA1; Simple; p.Glu2Glyfs*37 (c.4dupG) (c.3_4insG); Zygosity=Unspecified (PubMed=37084616).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C2993; Down syndrome
DI   NCIt; C82339; Transient abnormal myelopoiesis associated with Down syndrome
DI   ORDO; Orphanet_870; Down syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_C1NV ! CHOPi008-B
OI   CVCL_C1NW ! CHOPi008-C
SX   Male
AG   8D
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 05-10-23; Version: 4
//
RX   PubMed=37084616; DOI=10.1016/j.scr.2023.103098; PMCID=PMC10576909;
RA   Takasaki K., Kumar S.S., Gagne A.L., French D.L., Chou S.T.;
RT   "Generation of 2 isogenic clones from a patient with trisomy 21 and a
RT   GATA1 mutation.";
RL   Stem Cell Res. 69:103098-103098(2023).
//