ID   SDQLCHi030-A
AC   CVCL_A4XM
DR   BioSamples; SAMEA115039271
DR   hPSCreg; SDQLCHi030-A
DR   Wikidata; Q107116885
RX   PubMed=38154384;
CC   From: Qilu Children's Hospital of Shandong University; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 5157; HPRT1; Simple; p.Arg170Ter (c.508C>T); ClinVar=VCV000010063; Zygosity=Hemizygous (PubMed=38154384).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C61255; Lesch-Nyhan syndrome
DI   ORDO; Orphanet_510; Lesch-Nyhan syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   5Y5M
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 02-05-24; Version: 4
//
RX   PubMed=38154384; DOI=10.1016/j.scr.2023.103287;
RA   Li Y., Zhang H.-W., Guan J.-Y., Wang B., Zhang H.-Y., Liu Y.,
RA   Gai Z.-T.;
RT   "Generation of an iPSC line (SDQLCHi030-A) derived from PBMCs of a
RT   patient with Lesch-Nyhan syndrome caused by HPRT1 mutation.";
RL   Stem Cell Res. 74:103287-103287(2024).
//