Cellosaurus logo
expasy logo

Cellosaurus BIONi010-C-56 (CVCL_C9H1)

[Text version]
Cell line name BIONi010-C-56
Synonyms BIONi010-C-A713T-C25; Clone 25+/+; KUi011-A-56
Accession CVCL_C9H1
Resource Identification Initiative To cite this cell line use: BIONi010-C-56 (RRID:CVCL_C9H1)
Comments From: University of Copenhagen; Copenhagen; Denmark.
Population: African.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:1388; CACNA1A; Simple_edited; p.Ala712Thr (c.2134G>A) (p.Ala713Thr, c.2137G>A); ClinVar=VCV000254268; Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=37651830).
Disease Developmental and epileptic encephalopathy 42 (NCIt: C188142)
Non-specific early-onset epileptic encephalopathy (ORDO: Orphanet_442835)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_1E68 (BIONi010-C)
Sex of cell Male
Age at sampling 18Y
Category Induced pluripotent stem cell
Publications

PubMed=37651830; DOI=10.1016/j.scr.2023.103193
Rivera-Sanchez P., Sondergaard L., Wathikthinnakon M., Magnusson H.B.D., Frederiksen H.R.S., Hammer F.A., Taleb R., Cassidy C.C., Tranholm Bruun M., Tumer Z., Holst B., Brasch-Andersen C., Moller R.S., Freude K.K., Chandrasekaran A.
Generation of eight hiPSCs lines from two pathogenic variants in CACNA1A using the CRISPR-Cas9 gene editing technology.
Stem Cell Res. 71:103193-103193(2023)

Cross-references
Cell line databases/resources hPSCreg; BIONi010-C-56
Biological sample resources BioSamples; SAMEA112445949
Encyclopedic resources Wikidata; Q123030807
Entry history
Entry creation05-Oct-2023
Last entry update19-Dec-2024
Version number3