ID   INCABRi002-A
AC   CVCL_VD83
SY   PMF3.17
DR   hPSCreg; INCABRi002-A
DR   Wikidata; Q54897707
RX   PubMed=30343103;
CC   From: Instituto Nacional de Cancer (INCA); Rio de Janeiro; Brazil.
CC   Sequence variation: Mutation; HGNC; 1455; CALR; Simple; p.Lys385Asnfs*47 (c.1154_1155insTTGTC) (CALRins5); ClinVar=VCV001028735; Zygosity=Heterozygous (PubMed=30343103).
CC   Sequence variation: Mutation; HGNC; 11998; TP53; Simple; p.Trp146Ter (c.437G>A); ClinVar=VCV000634785; Zygosity=Homozygous (PubMed=30343103).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C2862; Primary myelofibrosis
DI   ORDO; Orphanet_824; Primary myelofibrosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   65Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 29-06-23; Version: 9
//
RX   PubMed=30343103; DOI=10.1016/j.scr.2018.09.012;
RA   Gomez Limia C.E., Devalle S., Reis M., Sochacki J.,
RA   Madeiro da Costa R., D'Andrea M., Padilha T., Zalcberg I.R., Solza C.,
RA   Daumas A., Rehen S.K., Bonamino M.H., Monte-Mor B.;
RT   "Characterization of a human induced pluripotent stem (iPS) cell line
RT   (INCABRi002-A) derived from a primary myelofibrosis patient harboring
RT   the 5-bp insertion in CALR and the p.W146X mutation in TP53.";
RL   Stem Cell Res. 33:130-134(2018).
//