ID   GZHMCi001-A
AC   CVCL_ZX47
SY   MEAK-iPS 1
DR   BioSamples; SAMEA6992761
DR   hPSCreg; GZHMCi001-A
DR   SKIP; SKIP005889
DR   Wikidata; Q102114075
RX   PubMed=32712483;
CC   From: The Third Affiliated Hospital of Guangzhou Medical College; Guangzhou; China.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; 6233; KCNC1; Simple; p.Arg320His (c.959G>A); ClinVar=VCV000162519; Zygosity=Heterozygous (PubMed=32712483).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C142804; Epilepsy, progressive myoclonic 7
DI   ORDO; Orphanet_435438; Progressive myoclonic epilepsy type 7
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_ZX48 ! GZHMCi001-B
SX   Male
AG   Children
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 29-06-23; Version: 5
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RX   PubMed=32712483; DOI=10.1016/j.scr.2020.101897;
RA   Liu N.-Q., Lu D., Xi Y.-J., Cheng Y., He L.-N., Chen D.-Y., Yang Y.-H.,
RA   Song B., Sun X.-F.;
RT   "Generation of induced pluripotent stem cell GZHMCi001-A and
RT   GZHMCi001-B derived from peripheral blood mononuclear cells of
RT   epileptic patients with KCNC1 mutation.";
RL   Stem Cell Res. 47:101897-101897(2020).
//