ID   SDQLCHi080-A
AC   CVCL_D6R1
DR   BioSamples; SAMEA115938033
DR   hPSCreg; SDQLCHi080-A
RX   PubMed=39213692;
CC   From: Qilu Children's Hospital of Shandong University; Jinan; China.
CC   Sequence variation: Mutation; HGNC; 4298; GLB1; Simple; p.Gln175Ter (c.523C>T); ClinVar=VCV000551241; Zygosity=Heterozygous (PubMed=39213692).
CC   Sequence variation: Mutation; HGNC; 4298; GLB1; Simple; p.Tyr192His (c.574T>C); ClinVar=VCV000918052; Zygosity=Heterozygous (PubMed=39213692).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84739; GM1 gangliosidosis
DI   ORDO; Orphanet_354; GM1 gangliosidosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   7Y
CA   Induced pluripotent stem cell
DT   Created: 10-09-24; Last updated: 10-09-24; Version: 1
//
RX   PubMed=39213692; DOI=10.1016/j.scr.2024.103545;
RA   Guan J.-Y., Duan C.-H., Lv Y.-Q., Zhang H.-Y., Liu G.-H., Liu Y.;
RT   "Establishment of iPS cell line (SDQLCHi080-A) from a patient with GM1
RT   gangliosidosis due to GLB1 mutation.";
RL   Stem Cell Res. 81:103545-103545(2024).
//