Cellosaurus cell line SDQLCHi080-A (CVCL

Cross-references
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; HGNC:4298; GLB1; Simple; p.Gln175Ter (c.523C>T); ClinVar=VCV000551241; Zygosity=Heterozygous (PubMed=39213692). Mutation; HGNC; 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 Jing-Yun Guan, Chun-Hong Duan, Yu-Qiang Lv, Hai-Yan Zhang, Guo-Hua Liu, Yi Liu; Establishment of iPS cell line (SDQLCHi080-A) from a patient with GM1 gangliosidosis due to GLB1 mutation. Stem Cell Res. 81:103545-103545(2024)
Cell line databases/resources	hPSCreg; SDQLCHi080-A
Biological sample resources	BioSamples; SAMEA115938033
Entry history
Entry creation	10-Sep-2024
Last entry update	19-Dec-2024
Version number	2