ID   PUFHi001-A
AC   CVCL_A2XY
SY   QZY-iPSC
DR   hPSCreg; PUFHi001-A
DR   Wikidata; Q105510611
RX   PubMed=33232902;
CC   From: Peking University First Hospital; Beijing; China.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; 6220; KCNA2; Simple; p.Pro405Leu (c.1214C>T); ClinVar=VCV000190325; Zygosity=Heterozygous (PubMed=33232902).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=33232902
ST   Amelogenin: X
ST   CSF1PO: 11
ST   D12S391: 19,22
ST   D13S317: 8,11
ST   D16S539: 9,13
ST   D18S51: 13
ST   D19S433: 13,15.2
ST   D21S11: 29,30
ST   D2S1338: 23,24
ST   D2S441: 12
ST   D3S1358: 16,17
ST   D5S818: 11,12
ST   D6S1043: 10,12
ST   D7S820: 9,12
ST   D8S1179: 14,15
ST   FGA: 22,25
ST   Penta D: 9,13
ST   Penta E: 11
ST   TH01: 9,9.3
ST   TPOX: 8,11
ST   vWA: 14,18
DI   NCIt; C155998; Developmental and epileptic encephalopathy 32
DI   ORDO; Orphanet_442835; Non-specific early-onset epileptic encephalopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   8Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 29-06-23; Version: 5
//
RX   PubMed=33232902; DOI=10.1016/j.scr.2020.102080;
RA   Gong P., Jiao X.-R., Zhang Y.-H., Yang Z.-X.;
RT   "Generation of a human iPSC line from an epileptic encephalopathy
RT   patient with electrical status epilepticus during sleep carrying KCNA2
RT   (p.P405L) mutation.";
RL   Stem Cell Res. 49:102080-102080(2020).
//