ID   BIONi010-C-58
AC   CVCL_C9H3
SY   BIONi010-C-A713T-C1; Clone 1+/-; KUi011-A-58
DR   BioSamples; SAMEA112464094
DR   hPSCreg; BIONi010-C-58
DR   Wikidata; Q123030809
RX   PubMed=37651830;
CC   From: University of Copenhagen; Copenhagen; Denmark.
CC   Population: African.
CC   Sequence variation: Mutation; HGNC; HGNC:1388; CACNA1A; Simple_edited; p.Ala712Thr (c.2134G>A) (p.Ala713Thr, c.2137G>A); ClinVar=VCV000254268; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=37651830).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C188142; Developmental and epileptic encephalopathy 42
DI   ORDO; Orphanet_442835; Non-specific early-onset epileptic encephalopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_1E68 ! BIONi010-C
SX   Male
AG   18Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 19-12-24; Version: 3
//
RX   PubMed=37651830; DOI=10.1016/j.scr.2023.103193;
RA   Rivera-Sanchez P., Sondergaard L., Wathikthinnakon M.,
RA   Magnusson H.B.D., Frederiksen H.R.S., Hammer F.A., Taleb R.,
RA   Cassidy C.C., Tranholm Bruun M., Tumer Z., Holst B.,
RA   Brasch-Andersen C., Moller R.S., Freude K.K., Chandrasekaran A.;
RT   "Generation of eight hiPSCs lines from two pathogenic variants in
RT   CACNA1A using the CRISPR-Cas9 gene editing technology.";
RL   Stem Cell Res. 71:103193-103193(2023).
//