ID   ND41871
AC   CVCL_RY03
AS   CVCL_Y842
SY   ND41871*F; 2L14; PGRN S116X iPSC #14
DR   Coriell; ND41871
DR   NHCDR; ND41871
DR   SKIP; SKIP001566
DR   Wikidata; Q54584594
RX   PubMed=23063362;
CC   Sequence variation: Mutation; HGNC; HGNC:4601; GRN; Simple; p.Ser116Ter (c.347C>A); ClinVar=VCV002633502; Zygosity=Unspecified (PubMed=23063362).
CC   Discontinued: Coriell; ND41871; true.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
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)
OI   CVCL_RY02 ! ND41870
OI   CVCL_RY04 ! ND41872
SX   Male
AG   64Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 10
//
RX   PubMed=23063362; DOI=10.1016/j.celrep.2012.09.007; PMCID=PMC3532907;
RA   Almeida S., Zhang Z.-J., Coppola G., Mao W.-J., Futai K., Karydas A.M.,
RA   Geschwind M.D., Tartaglia M.C., Gao F.-Y., Gianni D., Sena-Esteves M.,
RA   Geschwind D.H., Miller B.L., Farese R.V. Jr., Gao F.-B.;
RT   "Induced pluripotent stem cell models of progranulin-deficient
RT   frontotemporal dementia uncover specific reversible neuronal
RT   defects.";
RL   Cell Rep. 2:789-798(2012).
//