ID   BIONi010-C-60
AC   CVCL_C9H5
SY   BIONi010-C-R589C-C7; Clone 7+/+; KUi011-A-60
DR   BioSamples; SAMEA112484118
DR   hPSCreg; BIONi010-C-60
DR   Wikidata; Q123030811
RX   PubMed=37651830;
CC   From: University of Copenhagen; Copenhagen; Denmark.
CC   Population: African.
CC   Sequence variation: Mutation; HGNC; HGNC:1388; CACNA1A; Simple_edited; p.Arg588Cys (c.1762C>T) (p.Arg589Cys, c.1765C>T); ClinVar=VCV001691641; Zygosity=Homozygous; 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, Paula
RA   Sondergaard, Line
RA   Wathikthinnakon, Methi
RA   Magnusson, Helena B.D.
RA   Frederiksen, Henriette Reventlow Secher
RA   Hammer, Freja Aabaek
RA   Taleb, Reema
RA   Cassidy, Conan Christian
RA   Tranholm Bruun, Mads
RA   Tumer, Zeynep
RA   Holst, Bjorn
RA   Brasch-Andersen, Charlotte
RA   Moller, Rikke Steensbjerre
RA   Freude, Kristine Karla
RA   Chandrasekaran, Abinaya
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).
//