Cellosaurus logo
expasy logo

Cellosaurus ZJSHDPi001-A (CVCL_C8D1)

[Text][XML][JSON]
Cell line name ZJSHDPi001-A
Synonyms ZJSH-FGF12
Accession CVCL_C8D1
Resource Identification Initiative To cite this cell line use: ZJSHDPi001-A (RRID:CVCL_C8D1)
Comments From: Department of Pediatrics, The Second Affiliated Hospital of Zhejiang University School of Medicine; Hangzhou; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:3668; FGF12; Simple; p.Gly112Ser (c.334G>A) (p.Gly50Ser, c.148G>A); ClinVar=VCV000522854; Zygosity=Heterozygous (PubMed=37331110).
Disease Developmental and epileptic encephalopathy 47 (NCIt: C201514)
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 3Y
Category Induced pluripotent stem cell
Publications

PubMed=37331110; DOI=10.1016/j.scr.2023.103127
Liu-Yan Gao, Xing-Lei Shi, Guo-Fa Su, Yu-Fan Guo, Yu-Ting Lou, Ye Wang, Pu Miao, Jian-Hua Feng;
Generation of a human iPSC line (ZJSHDPi001-A) from peripheral blood mononuclear cells of a patient with developmental epileptic encephalopathy-47 carrying FGF12 gene mutation (c.334G > A).
Stem Cell Res. 71:103127-103127(2023)

Cross-references
Cell line databases/resources hPSCreg; ZJSHDPi001-A
Encyclopedic resources Wikidata; Q123034004
Entry history
Entry creation29-Jun-2023
Last entry update19-Dec-2024
Version number4