ID   TUSMi006-A
AC   CVCL_VN40
SY   15M0014
DR   BioSamples; SAMEA4760629
DR   hPSCreg; TUSMi006-A
DR   Wikidata; Q98133687
RX   PubMed=30077089;
CC   From: Tongji University School of Medicine; Wuhan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 4586; GRIN2B; Simple; p.Arg712Lys (c.2135G>A); Zygosity=Unspecified (PubMed=30077089).
CC   Sequence variation: Mutation; HGNC; 11185; SORL1; Simple; p.Thr1483Ala (c.4447A>G); ClinVar=VCV000761546; Zygosity=Unspecified (PubMed=30077089).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=30077089
ST   Amelogenin: X,Y
ST   CSF1PO: 12
ST   D10S1248: 13
ST   D12S391: 17,18
ST   D13S317: 10,11
ST   D16S539: 9
ST   D18S51: 13
ST   D19S433: 13,15.2
ST   D21S11: 30,32
ST   D2S1338: 20,23
ST   D2S441: 9.1,14
ST   D3S1358: 15,16
ST   D5S818: 13
ST   D6S1043: 18
ST   D7S820: 8,12
ST   D8S1179: 14,16
ST   FGA: 19,23
ST   Penta D: 8,12
ST   Penta E: 5,18
ST   TH01: 6,9
ST   TPOX: 8,11
ST   vWA: 16,18
DI   NCIt; C2866; Alzheimer's disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   87Y
CA   Induced pluripotent stem cell
DT   Created: 07-09-18; Last updated: 29-06-23; Version: 7
//
RX   PubMed=30077089; DOI=10.1016/j.scr.2018.07.018;
RA   Wang Y., Yu H.-X., Chen Y., Li G., Lei Y., Zhao J.;
RT   "Derivation of induced pluripotent stem cells TUSMi006 from an 87-year
RT   old Chinese Han Alzheimer's disease patient carrying GRINB and SORL1
RT   mutations.";
RL   Stem Cell Res. 31:127-130(2018).
//