Cellosaurus logo
expasy logo

Cellosaurus QBRIi015-A (CVCL_C1VW)

[Text version]
Cell line name QBRIi015-A
Synonyms NDD04; NDD_04; hiPSC_11080404_c1
Accession CVCL_C1VW
Resource Identification Initiative To cite this cell line use: QBRIi015-A (RRID:CVCL_C1VW)
Comments From: Qatar Biomedical Research Institute; Doha; Quatar.
Population: Arab.
Donor information: Established from monozygotic triplet of QBRIi014-A (Cellosaurus=CVCL_C1VV) and QBRIi016-A (Cellosaurus=CVCL_C1VX).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 15751; NAPB; Simple; c.354+2T>G; Zygosity=Homozygous; Note=Splice donor mutation (PubMed=36272305).
Disease Developmental and epileptic encephalopathy 107 (NCIt: C190869)
Non-specific early-onset epileptic encephalopathy (ORDO: Orphanet_442835)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 28Y
Category Induced pluripotent stem cell
Publications

PubMed=36272305; DOI=10.1016/j.scr.2022.102943
Ali G., Habbab W., Alkhadairi G., Al-Shaban F.A., Stanton L.W.
Generation of induced pluripotent stem cell lines from nonaffected parents and monozygotic triplets affected with autism spectrum disorder and epilepsy.
Stem Cell Res. 65:102943-102943(2022)

Cross-references
Cell line databases/resources hPSCreg; QBRIi015-A
Biological sample resources BioSamples; SAMEA111396555
Encyclopedic resources Wikidata; Q114312746
Entry history
Entry creation22-Sep-2022
Last entry update05-Oct-2023
Version number5