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Cellosaurus UBCi001-A (CVCL_YC92)

[Text version]
Cell line name UBCi001-A
Synonyms GRN-R418X; R418X+/-
Accession CVCL_YC92
Resource Identification Initiative To cite this cell line use: UBCi001-A (RRID:CVCL_YC92)
Comments From: University of British Columbia; Vancouver; Canada.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 4601; GRN; Simple; p.Arg418Ter (c.1252C>T); ClinVar=VCV000098177; Zygosity=Heterozygous (PubMed=31707213).
Disease Frontotemporal dementia (NCIt: C84719)
Behavioral variant of frontotemporal dementia (ORDO: Orphanet_275864)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling Age unspecified
Category Induced pluripotent stem cell
Publications

PubMed=31707213; DOI=10.1016/j.scr.2019.101582
Frew J., Wu X.-J., Hsiung G.Y., Feldman H.H., Mackenzie I.R., Nygaard H.B.
Generation of an induced pluripotent stem cell line (UBCi001-A) from a presymptomatic individual carrying the R418X progranulin gene mutation.
Stem Cell Res. 41:101582-101582(2019)

Cross-references
Cell line databases/resources hPSCreg; UBCi001-A
Encyclopedic resources Wikidata; Q98133805
Entry history
Entry creation19-Dec-2019
Last entry update29-Jun-2023
Version number7