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Cellosaurus CIPi002-A (CVCL_C0II)

[Text version]
Cell line name CIPi002-A
Accession CVCL_C0II
Resource Identification Initiative To cite this cell line use: CIPi002-A (RRID:CVCL_C0II)
Comments From: Children's Hospital of Capital Institute of Pediatrics; Beijing; China.
Population: Chinese.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 10596; SCN8A; Simple; p.Met367Val (c.1099A>G); ClinVar=VCV000207105; Zygosity=Heterozygous (PubMed=35853415).
Disease Developmental and epileptic encephalopathy 13 (NCIt: C188139)
Non-specific early-onset epileptic encephalopathy (ORDO: Orphanet_442835)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 3Y5M
Category Induced pluripotent stem cell
Publications

PubMed=35853415; DOI=10.1016/j.scr.2022.102862
Zhang P.-P., Zheng P., Ji X.-N., Gao Y.-Y., Zhang X., Chen Q.
Generation of a human induced pluripotent stem cell line (CIPi002-A) from an early infantile epileptic encephalopathy patient with a heterozygous mutation in SCN8A.
Stem Cell Res. 63:102862-102862(2022)

Cross-references
Cell line databases/resources hPSCreg; CIPi002-A
Biological sample resources BioSamples; SAMEA14436310
Encyclopedic resources Wikidata; Q112929388
Entry history
Entry creation23-Jun-2022
Last entry update29-Jun-2023
Version number4