Cellosaurus logo
expasy logo

Cellosaurus SDCHi007-A (CVCL_E9CW)

[Text version]
Cell line name SDCHi007-A
Synonyms RY5; RY-5
Accession CVCL_E9CW
Resource Identification Initiative To cite this cell line use: SDCHi007-A (RRID:CVCL_E9CW)
Comments From: Children's Hospital Affiliated to Shandong University; Jinan; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:800; ATP1A2; Simple; p.Leu108Arg (c.323T>G); Zygosity=Heterozygous (PubMed=39002250).
Disease Developmental and epileptic encephalopathy 98 (NCIt: C217085)
Non-specific early-onset epileptic encephalopathy (ORDO: Orphanet_442835)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 2Y
Category Induced pluripotent stem cell
Publications

PubMed=39002250; DOI=10.1016/j.scr.2024.103490
Hong-Wei Zhang, Tong Zhang, Ya-Ping Wang, Jian-Guo Shi, Yao Meng, Qi Zhang, Qing-Wei Guo, Chun-Hong Duan;
Establishment of a transgene-free iPS cell line (SDCHi007-A) from a young patient bearing a ATP1A2 mutation and suffering from Epilepsy.
Stem Cell Res. 79:103490-103490(2024)

Cross-references
Cell line databases/resources hPSCreg; SDCHi007-A
Biological sample resources BioSamples; SAMEA115797731
Entry history
Entry creation14-Aug-2025
Last entry update14-Aug-2025
Version number1