ID   UBCi001-A
AC   CVCL_YC92
SY   GRN-R418X; R418X+/-
DR   hPSCreg; UBCi001-A
DR   Wikidata; Q98133805
RX   PubMed=31707213;
CC   From: University of British Columbia; Vancouver; Canada.
CC   Sequence variation: Mutation; HGNC; HGNC:4601; GRN; Simple; p.Arg418Ter (c.1252C>T); ClinVar=VCV000098177; Zygosity=Heterozygous (PubMed=31707213).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84719; Frontotemporal dementia
DI   ORDO; Orphanet_275864; Behavioral variant of frontotemporal dementia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 19-12-24; Version: 8
//
RX   PubMed=31707213; DOI=10.1016/j.scr.2019.101582;
RA   Frew J., Wu X.-J., Hsiung G.-Y.R., Feldman H.H., Mackenzie I.R.A.,
RA   Nygaard H.B.;
RT   "Generation of an induced pluripotent stem cell line (UBCi001-A) from
RT   a presymptomatic individual carrying the R418X progranulin gene
RT   mutation.";
RL   Stem Cell Res. 41:101582-101582(2019).
//