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Cellosaurus SDQLCHi030-A (CVCL_A4XM)

[Text version]
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; 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
Li Y., Zhang H.-W., Guan J.-Y., Wang B., Zhang H.-Y., Liu Y., Gai Z.-T.
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)

Cross-references
Cell line databases/resources hPSCreg; SDQLCHi030-A
Biological sample resources BioSamples; SAMEA115039271
Encyclopedic resources Wikidata; Q107116885
Entry history
Entry creation20-May-2021
Last entry update02-May-2024
Version number4