Cellosaurus cell line GZHMCi001-A (CVCL

Cross-references
Cell line name	GZHMCi001-A
Synonyms	MEAK-iPS 1
Accession	CVCL_ZX47
Resource Identification Initiative	To cite this cell line use: GZHMCi001-A (RRID:CVCL_ZX47)
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; 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_ZX48 ! GZHMCi001-B
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., Xie 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)
Cell line databases/resources	hPSCreg; GZHMCi001-A SKIP; SKIP005889
Biological sample resources	BioSamples; SAMEA6992761
Encyclopedic resources	Wikidata; Q102114075
Entry history
Entry creation	29-Oct-2020
Last entry update	19-Dec-2024
Version number	6