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Cellosaurus INCABRi002-A (CVCL_VD83)

[Text version]
Cell line name INCABRi002-A
Synonyms PMF3.17
Accession CVCL_VD83
Resource Identification Initiative To cite this cell line use: INCABRi002-A (RRID:CVCL_VD83)
Comments From: Instituto Nacional de Cancer (INCA); Rio de Janeiro; Brazil.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 1455; CALR; Simple; p.Lys385Asnfs*47 (c.1154_1155insTTGTC) (CALRins5); ClinVar=VCV001028735; Zygosity=Heterozygous (PubMed=30343103).
  • Mutation; HGNC; 11998; TP53; Simple; p.Trp146Ter (c.437G>A); ClinVar=VCV000634785; Zygosity=Homozygous (PubMed=30343103).
Disease Primary myelofibrosis (NCIt: C2862)
Primary myelofibrosis (ORDO: Orphanet_824)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 65Y
Category Induced pluripotent stem cell
Publications

PubMed=30343103; DOI=10.1016/j.scr.2018.09.012
Gomez Limia C.E., Devalle S., Reis M., Sochacki J., Madeiro da Costa R., D'Andrea M., Padilha T., Zalcberg I.R., Solza C., Daumas A., Rehen S.K., Bonamino M.H., Monte-Mor B.
Characterization of a human induced pluripotent stem (iPS) cell line (INCABRi002-A) derived from a primary myelofibrosis patient harboring the 5-bp insertion in CALR and the p.W146X mutation in TP53.
Stem Cell Res. 33:130-134(2018)

Cross-references
Cell line databases/resources hPSCreg; INCABRi002-A
Encyclopedic resources Wikidata; Q54897707
Entry history
Entry creation14-May-2018
Last entry update29-Jun-2023
Version number9