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Cellosaurus ZJUi013-A (CVCL_C9HU)

[Text version]
Cell line name ZJUi013-A
Accession CVCL_C9HU
Resource Identification Initiative To cite this cell line use: ZJUi013-A (RRID:CVCL_C9HU)
Comments From: Zhejiang University School of Medicine; Hangzhou; China.
Population: Chinese; Han.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:31750; SAMD12; Unexplicit; 5-BP INS, TTTCA(n) repeat expansion, IVS4; ClinVar=VCV000560216; Zygosity=Heterozygous (PubMed=37890330).
Disease Familial adult myoclonic epilepsy 1 (NCIt: C206111)
Benign adult familial myoclonic epilepsy (ORDO: Orphanet_86814)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 40Y
Category Induced pluripotent stem cell
Publications

PubMed=37890330; DOI=10.1016/j.scr.2023.103236
Zhang F., Chen S.-Q., Chen Y.-L., Chen X.-H., Cen Z.-D., Luo W.
Generation of an induced pluripotent stem cell line (ZJUi013-A) from a familial cortical myoclonic tremor with epilepsy type 1 patient carrying (TTTCA)(n) insertion in the SAMD12 gene.
Stem Cell Res. 73:103236-103236(2023)

Cross-references
Cell line databases/resources hPSCreg; ZJUi013-A
Encyclopedic resources Wikidata; Q123034005
Entry history
Entry creation05-Oct-2023
Last entry update19-Dec-2024
Version number5