ID   H234 C2
AC   CVCL_DQ59
SY   H234 clone 2; L150P-hiPSC
DR   SKIP; SKIP001287
DR   Wikidata; Q54872020
RX   PubMed=27345792;
RX   PubMed=27789395;
CC   From: Bioneer A/S; Horsholm; Denmark.
CC   Sequence variation: Mutation; HGNC; HGNC:9508; PSEN1; Simple; p.Leu150Pro (c.449T>C); Zygosity=Heterozygous (PubMed=27345792).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C123412; Alzheimer's disease 3
DI   ORDO; Orphanet_1020; Early-onset autosomal dominant Alzheimer disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   58Y
CA   Induced pluripotent stem cell
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 13
//
RX   PubMed=27345792; DOI=10.1016/j.scr.2015.12.015;
RA   Tubsuwan A., Pires C., Rasmussen M.A., Schmid B., Nielsen J.E.,
RA   Hjermind L.E., Hall V.J., Nielsen T.T., Waldemar G., Hyttel P.,
RA   Clausen C., Kitiyanant N., Freude K.K., Holst B.;
RT   "Generation of induced pluripotent stem cells (iPSCs) from an
RT   Alzheimer's disease patient carrying a L150P mutation in PSEN-1.";
RL   Stem Cell Res. 16:110-112(2016).
//
RX   PubMed=27789395; DOI=10.1016/j.scr.2016.09.018;
RA   Poon A., Schmid B., Pires C., Nielsen T.T., Hjermind L.E.,
RA   Nielsen J.E., Holst B., Hyttel P., Freude K.K.;
RT   "Generation of a gene-corrected isogenic control hiPSC line derived
RT   from a familial Alzheimer's disease patient carrying a L150P mutation
RT   in presenilin 1.";
RL   Stem Cell Res. 17:466-469(2016).
//