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Cellosaurus GZHMCi001-B (CVCL_ZX48)

[Text version]
Cell line name GZHMCi001-B
Synonyms MEAK-iPS 2
Accession CVCL_ZX48
Resource Identification Initiative To cite this cell line use: GZHMCi001-B (RRID:CVCL_ZX48)
Comments From: The Third Affiliated Hospital of Guangzhou Medical College; Guangzhou; China.
Population: Chinese.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 6233; KCNC1; Simple; p.Arg320His (c.959G>A); ClinVar=VCV000162519; Zygosity=Heterozygous (PubMed=32712483).
Disease Epilepsy, progressive myoclonic 7 (NCIt: C142804)
Progressive myoclonic epilepsy type 7 (ORDO: Orphanet_435438)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_ZX47 ! GZHMCi001-A
Sex of cell Male
Age at sampling Children
Category Induced pluripotent stem cell
Publications

PubMed=32712483; DOI=10.1016/j.scr.2020.101897
Liu N.-Q., Lu D., Xi Y.-J., Cheng Y., He L.-N., Chen D.-Y., Yang Y.-H., Song B., Sun X.-F.
Generation of induced pluripotent stem cell GZHMCi001-A and GZHMCi001-B derived from peripheral blood mononuclear cells of epileptic patients with KCNC1 mutation.
Stem Cell Res. 47:101897-101897(2020)

Cross-references
Cell line databases/resources hPSCreg; GZHMCi001-B
SKIP; SKIP005890
Encyclopedic resources Wikidata; Q102114076
Entry history
Entry creation29-Oct-2020
Last entry update29-Jun-2023
Version number5