ID   CHOPi001-A
DR   BioSamples; SAMEA5291610
DR   hPSCreg; CHOPi001-A
DR   Wikidata; Q93453044
RX   PubMed=30096712;
CC   From: Children's Hospital of Philadelphia; Philadelphia; USA.
CC   Sequence variation: Mutation; HGNC; 1541; CBL; Simple; p.Tyr371His (c.1111T>C); ClinVar=VCV000013811; Zygosity=Hemizygous (PubMed=30096712).
CC   Derived from site: In situ; Bone marrow; UBERON=UBERON_0002371.
DI   NCIt; C9233; Juvenile myelomonocytic leukemia
DI   ORDO; Orphanet_86834; Juvenile myelomonocytic leukemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   7M
CA   Induced pluripotent stem cell
DT   Created: 07-09-18; Last updated: 29-06-23; Version: 8
RX   PubMed=30096712; DOI=10.1016/j.scr.2018.07.001;
RA   Gagne A.L., Maguire J.A., Gandre-Babbe S., Chou S.T., Tasian S.K.,
RA   Loh M.L., Weiss M.J., Gadue P., French D.L.;
RT   "Generation of a human juvenile myelomonocytic leukemia iPSC line,
RT   CHOPi001-A, with a mutation in CBL.";
RL   Stem Cell Res. 31:157-160(2018).