ID   INCABRi001-A
AC   CVCL_LK61
SY   PMF6.1; INCABRi001-A1
DR   hPSCreg; INCABRi001-A
DR   Wikidata; Q54897706
RX   PubMed=29034885;
CC   From: Instituto Nacional de Cancer (INCA); Rio de Janeiro; Brazil.
CC   Sequence variation: Mutation; HGNC; HGNC:18318; ASXL1; Simple; p.Arg693Ter (c.2077C>T); ClinVar=VCV000620281; Zygosity=Unspecified (PubMed=29034885).
CC   Sequence variation: Mutation; HGNC; HGNC:1455; CALR; Simple; p.Leu367Thrfs*46 (c.1092_1143del52); ClinVar=VCV000097006; Zygosity=Unspecified (PubMed=29034885).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C9154; Adult acute myeloid leukemia
DI   NCIt; C2862; Primary myelofibrosis
DI   ORDO; Orphanet_519; Acute myeloid leukemia
DI   ORDO; Orphanet_824; Primary myelofibrosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   61Y
CA   Induced pluripotent stem cell
DT   Created: 15-11-17; Last updated: 19-12-24; Version: 11
//
RX   PubMed=29034885; DOI=10.1016/j.scr.2017.08.006;
RA   Gomez Limia C.E., Devalle S., Reis M., Sochacki J., Carneiro M.,
RA   Madeiro da Costa R., D'Andrea M., Padilha T., Zalcberg I.R., Solza C.,
RA   Daumas A., Rehen S.K., Monte-Mor B., Bonamino M.H.;
RT   "Generation and characterization of a human induced pluripotent stem
RT   (iPS) cell line derived from an acute myeloid leukemia patient
RT   evolving from primary myelofibrosis carrying the CALR 52 bp deletion
RT   and the ASXL1 p.R693X mutation.";
RL   Stem Cell Res. 24:16-20(2017).
//