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Cellosaurus SYSUi003-A (CVCL_YJ61)

[Text version]
Cell line name SYSUi003-A
Synonyms SYSUi-003-A; GRIN2A+/L611Q iPSC
Accession CVCL_YJ61
Resource Identification Initiative To cite this cell line use: SYSUi003-A (RRID:CVCL_YJ61)
Comments From: Sun Yat-sen University; Guangzhou; China.
Population: Chinese.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 4585; GRIN2A; Simple; p.Leu611Gln (c.1832A>T); Zygosity=Heterozygous; Note=De novo mutation (PubMed=32036246).
Disease Epilepsy, focal, with speech disorder and with or without mental retardation (NCIt: C168598)
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation (ORDO: Orphanet_289266)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 7Y
Category Induced pluripotent stem cell
Publications

PubMed=32036246; DOI=10.1016/j.scr.2020.101706
Sun C.-B., Yang M.-Z., Qin F.-Y., Guo R.-R., Liang S.-Q., Hu H.
Generation of an induced pluripotent stem cell line SYSUi-003-A from a child with epilepsy carrying GRIN2A mutation.
Stem Cell Res. 43:101706-101706(2020)

Cross-references
Cell line databases/resources hPSCreg; SYSUi003-A
SKIP; SKIP005643
Encyclopedic resources Wikidata; Q98132952
Entry history
Entry creation19-Dec-2019
Last entry update29-Jun-2023
Version number7