Cellosaurus cell line UBCi001-A (CVCL

Cross-references
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; 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 Jonathan Frew, Xiu-Juan Wu, Ging-Yuek Robin Hsiung, Howard H. Feldman, Ian R.A. Mackenzie, Haakon Berge Nygaard; 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)
Cell line databases/resources	hPSCreg; UBCi001-A
Encyclopedic resources	Wikidata; Q98133805
Entry history
Entry creation	19-Dec-2019
Last entry update	19-Dec-2024
Version number	8