ID   NCBSi001-A
AC   CVCL_UL57
SY   AD3
DR   hPSCreg; NCBSi001-A
DR   Wikidata; Q95992482
RX   PubMed=30605839;
CC   From: Tata Institute of Fundamental Research, National Centre for Biological Sciences; Bangalore; India.
CC   Population: Indian.
CC   Sequence variation: Mutation; HGNC; 9508; PSEN1; Simple; p.Trp165Cys (c.495G>C); ClinVar=VCV000098036; Zygosity=Heterozygous (PubMed=30605839).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=30605839
ST   Amelogenin: X
ST   CSF1PO: 10,11
ST   D13S317: 10,13
ST   D16S539: 8,15
ST   D21S11: 29,30
ST   D5S818: 9,12
ST   D7S820: 8,12
ST   TH01: 8
ST   TPOX: 9,11
ST   vWA: 17
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   Female
AG   49Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 29-06-23; Version: 7
//
RX   PubMed=30605839; DOI=10.1016/j.scr.2018.101370;
RA   Najar A.H., Sneha K.M., Ashok A., Babu S., Subramaniam A.G.,
RA   Kannan R., Viswanath B., Purushottam M., Varghese M., Parvez S.,
RA   Panicker M.M., Mukherjee O., Jain S.;
RT   "Derivation of iPSC lines from two patients with familial Alzheimer's
RT   disease from India.";
RL   Stem Cell Res. 34:101370-101370(2019).
//