Cellosaurus logo
expasy logo

Cellosaurus SDQLCHi080-A (CVCL_D6R1)

[Text version]
Cell line name SDQLCHi080-A
Accession CVCL_D6R1
Resource Identification Initiative To cite this cell line use: SDQLCHi080-A (RRID:CVCL_D6R1)
Comments From: Qilu Children's Hospital of Shandong University; Jinan; China.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 4298; GLB1; Simple; p.Gln175Ter (c.523C>T); ClinVar=VCV000551241; Zygosity=Heterozygous (PubMed=39213692).
  • Mutation; HGNC; 4298; GLB1; Simple; p.Tyr192His (c.574T>C); ClinVar=VCV000918052; Zygosity=Heterozygous (PubMed=39213692).
Disease GM1 gangliosidosis (NCIt: C84739)
GM1 gangliosidosis (ORDO: Orphanet_354)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 7Y
Category Induced pluripotent stem cell
Publications

PubMed=39213692; DOI=10.1016/j.scr.2024.103545
Guan J.-Y., Duan C.-H., Lv Y.-Q., Zhang H.-Y., Liu G.-H., Liu Y.
Establishment of iPS cell line (SDQLCHi080-A) from a patient with GM1 gangliosidosis due to GLB1 mutation.
Stem Cell Res. 81:103545-103545(2024)

Cross-references
Cell line databases/resources hPSCreg; SDQLCHi080-A
Biological sample resources BioSamples; SAMEA115938033
Entry history
Entry creation10-Sep-2024
Last entry update10-Sep-2024
Version number1