ID   ND41870
AC   CVCL_RY02
AS   CVCL_Y841
SY   ND41870*C; 2L1; PGRN S116X iPSC #1
DR   Coriell; ND41870
DR   NHCDR; ND41870
DR   SKIP; SKIP001565
DR   SKIP; SKIP004727
DR   Wikidata; Q54584591
RX   PubMed=23063362;
RX   PubMed=27594586;
CC   Sequence variation: Mutation; HGNC; HGNC:4601; GRN; Simple; p.Ser116Ter (c.347C>A); Zygosity=Unspecified (PubMed=23063362).
CC   Discontinued: Coriell; ND41870; 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_RY03 ! ND41871
OI   CVCL_RY04 ! ND41872
SX   Male
AG   64Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 11
//
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).
//
RX   PubMed=27594586; DOI=10.1016/j.stemcr.2016.08.006; PMCID=PMC5032669;
RA   Biswas M.H.U., Almeida S., Lopez-Gonzalez R., Mao W.-J., Zhang Z.-J.,
RA   Karydas A.M., Geschwind M.D., Biernat J., Mandelkow E.-M., Futai K.,
RA   Miller B.L., Gao F.-B.;
RT   "MMP-9 and MMP-2 contribute to neuronal cell death in iPSC models of
RT   frontotemporal dementia with MAPT mutations.";
RL   Stem Cell Reports 7:316-324(2016).
//