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Cellosaurus ZJSHi001-A (CVCL_A9Z5)

[Text version]
Cell line name ZJSHi001-A
Synonyms ZJSHi-KCNB1
Accession CVCL_A9Z5
Resource Identification Initiative To cite this cell line use: ZJSHi001-A (RRID:CVCL_A9Z5)
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; 6231; KCNB1; Simple; p.Glu330Asp (c.990G>T); Zygosity=Heterozygous (PubMed=33607466).
Disease Developmental and epileptic encephalopathy 26 (NCIt: C175047)
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 6Y
Category Induced pluripotent stem cell
Publications

PubMed=33607466; DOI=10.1016/j.scr.2021.102224
Guo Y.-F., Wang J.-D., Wang Z.-L., Lou Y.-T., Chen W.-Y., Sheng M., Wang Y., Zhang B.-J., Gao L.-Y., Feng J.-H.
Establishment of an induced pluripotent stem cell line (ZJSHi001-A) from a patient with epileptic encephalopathy carrying KCNB1 Glu330Asp mutation.
Stem Cell Res. 52:102224-102224(2021)

Cross-references
Cell line databases/resources hPSCreg; ZJSHi001-A
Biological sample resources BioSamples; SAMEA7462435
Encyclopedic resources Wikidata; Q102115153
Entry history
Entry creation29-Oct-2020
Last entry update29-Jun-2023
Version number6