Cellosaurus cell line SDQLCHi030-A (CVCL

Cross-references
Cell line name	SDQLCHi030-A
Accession	CVCL_A4XM
Resource Identification Initiative	To cite this cell line use: SDQLCHi030-A (RRID:CVCL_A4XM)
Comments	From: Qilu Children's Hospital of Shandong University; Jinan; China. Population: Chinese; Han. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:5157; HPRT1; Simple; p.Arg170Ter (c.508C>T); ClinVar=VCV000010063; Zygosity=Hemizygous (PubMed=38154384).
Disease	Lesch-Nyhan syndrome (NCIt: C61255) Lesch-Nyhan syndrome (ORDO: Orphanet_510)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	5Y5M
Category	Induced pluripotent stem cell
Publications	PubMed=38154384; DOI=10.1016/j.scr.2023.103287 Yue Li, Hua-Wei Zhang, Jing-Yun Guan, Bin Wang, Hai-Yan Zhang, Yi Liu, Zhong-Tao Gai; Generation of an iPSC line (SDQLCHi030-A) derived from PBMCs of a patient with Lesch-Nyhan syndrome caused by HPRT1 mutation. Stem Cell Res. 74:103287-103287(2024)
Cell line databases/resources	hPSCreg; SDQLCHi030-A
Biological sample resources	BioSamples; SAMEA115039271
Encyclopedic resources	Wikidata; Q107116885
Entry history
Entry creation	20-May-2021
Last entry update	19-Dec-2024
Version number	5