ID   HSC-GRW
AC   CVCL_S965
DR   Cosmic; 977943
DR   Wikidata; Q54896415
RX   CelloPub=CLPUB00052;
RX   PubMed=12586620;
CC   Characteristics: KITLG dependent.
CC   Sequence variation: Mutation; HGNC; HGNC:4170; GATA1; Simple; p.Pro50fs*6 (c.150_184del35); Zygosity=Unspecified (PubMed=12586620).
DI   NCIt; C2993; Down syndrome
DI   NCIt; C43223; Myeloid leukemia associated with Down syndrome
DI   ORDO; Orphanet_870; Down syndrome
DI   ORDO; Orphanet_99887; Acute megakaryoblastic leukemia in Down syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Sex unspecified
AG   Age unspecified
CA   Cancer cell line
DT   Created: 03-02-14; Last updated: 19-12-24; Version: 10
//
RX   CelloPub=CLPUB00052;
RA   Zipursky A., Vanek W., Grunberger T., Brown E.J., Wang H.,
RA   Sutherland D.R., Yeo E.L., Cohen A., Christensen H., Freedman M.H.;
RT   "A megakaryoblast cell line from a patient with Down syndrome-acute
RT   megakaryoblastic leukemia (DS-AMKL): in vitro differentiation of
RT   megakaryoblasts.";
RL   Blood 82 Suppl. 1:122a-122a(1993).
//
RX   PubMed=12586620; DOI=10.1182/blood-2003-01-0013;
RA   Hitzler J.K., Cheung J., Li Y., Scherer S.W., Zipursky A.;
RT   "GATA1 mutations in transient leukemia and acute megakaryoblastic
RT   leukemia of Down syndrome.";
RL   Blood 101:4301-4304(2003).
//