ID   FTD3#6-PGRN
AC   CVCL_ZI78
DR   Wikidata; Q98126273
RX   PubMed=25556567;
CC   Characteristics: Using ZFN GRN was introduced in the AAVS1 safe harbor locus.
CC   Sequence variation: Mutation; HGNC; HGNC:4601; GRN; Simple; c.-8+5G>C (IVS1+5G>C) (g-3826G>C); ClinVar=VCV000098119; Zygosity=Unspecified (PubMed=25556567).
CC   Genetic integration: Method=ZFN; Gene=HGNC; HGNC:4601; GRN.
CC   Omics: Transcriptome analysis by RNAseq.
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84719; Frontotemporal dementia
DI   ORDO; Orphanet_275864; Behavioral variant of frontotemporal dementia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_ZI77 ! FTD3#6-iPSC
CA   Induced pluripotent stem cell
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 9
//
RX   PubMed=25556567; DOI=10.1016/j.stemcr.2014.12.001; PMCID=PMC4297877;
RA   Raitano S., Ordovas L., De Muynck L., Guo W.-T., Espuny-Camacho I.,
RA   Geraerts M., Khurana S., Vanuytsel K., Toth B.I., Voets T.,
RA   Vandenberghe R., Cathomen T., Van Den Bosch L., Vanderhaeghen P.,
RA   Van Damme P., Verfaillie C.M.;
RT   "Restoration of progranulin expression rescues cortical neuron
RT   generation in an induced pluripotent stem cell model of frontotemporal
RT   dementia.";
RL   Stem Cell Reports 4:16-24(2015).
//