ID   SDCHi003-A
AC   CVCL_D6LG
SY   NPRL2-ZHW5; ZHW5-IPS
DR   BioSamples; SAMEA115080427
DR   hPSCreg; SDCHi003-A
DR   Wikidata; Q127384261
RX   PubMed=38430737;
CC   From: Children's Hospital Affiliated to Shandong University; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; HGNC:24969; NPRL2; Unexplicit; Partial deletion; Zygosity=Heterozygous (PubMed=38430737).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C206114; Familial focal epilepsy with variable foci 2
DI   ORDO; Orphanet_98820; Familial focal epilepsy with variable foci
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   4Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 19-12-24; Version: 3
//
RX   PubMed=38430737; DOI=10.1016/j.scr.2024.103366;
RA   Su, Song
RA   Zhao, Fen
RA   Zhang, Hong-Wei
RA   Liu, Yi
RA   Li, Zi-Long
RA   Zhang, Huan
RA   Wang, Ya-Ping
RA   Fang, Fang
RA   Liu, Yong
RT   "Establishment of a transgene-free iPS cell line (SDCHi003-A) from a
RT   young patient bearing a NPRL2 mutation and suffering from epilepsy.";
RL   Stem Cell Res. 76:103366-103366(2024).
//