ID   NCBSi004-A
AC   CVCL_C1UW
SY   Park14-control-2022
DR   BioSamples; SAMEA112281645
DR   hPSCreg; NCBSi004-A
DR   Wikidata; Q114312457
RX   PubMed=36706537;
CC   From: Tata Institute of Fundamental Research, National Centre for Biological Sciences; Bangalore; India.
CC   Population: Indian.
CC   Sequence variation: Mutation; HGNC; 9039; PLA2G6; Simple; p.Arg741Gln (c.2222G>A); ClinVar=VCV000006203; Zygosity=Heterozygous (PubMed=36706537).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=36706537
ST   Amelogenin: X
ST   CSF1PO: 10
ST   D13S317: 8,11
ST   D16S539: 11,12
ST   D21S11: 29
ST   D5S818: 10,11
ST   D7S820: 10,12
ST   TH01: 9
ST   TPOX: 9,11
ST   vWA: 16,17
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   40Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 29-06-23; Version: 4
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RX   PubMed=36706537; DOI=10.1016/j.scr.2023.103033;
RA   Gopurappilly R., Musthafa T., Sukumaran S., Viswanath B., Hasan G.;
RT   "Generation of feeder-independent transgene-free iPSC lines from a
RT   young-onset Parkinson's disease (YOPD) patient with a homozygous
RT   PLA2G6: c.2222G>A (p. Arg741Gln) mutation (NCBSi003-A) and unaffected
RT   heterozygous parent (NCBSi004-A).";
RL   Stem Cell Res. 67:103033-103033(2023).
//