Cellosaurus logo
expasy logo

Cellosaurus QBRIi016-A (CVCL_C1VX)

[Text][XML][JSON]
Cell line name QBRIi016-A
Synonyms NDD05; NDD_05; hiPSC_11080405_c1
Accession CVCL_C1VX
Resource Identification Initiative To cite this cell line use: QBRIi016-A (RRID:CVCL_C1VX)
Comments From: Qatar Biomedical Research Institute; Doha; Quatar.
Population: Arab.
Donor information: Established from monozygotic triplet of QBRIi014-A (Cellosaurus=CVCL_C1VV) and QBRIi015-A (Cellosaurus=CVCL_C1VW).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 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
Gowher Ali, Wesal Habbab, Ghaneya Alkhadairi, Fouad A. Al-Shaban, Lawrence Walter Stanton;
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; QBRIi016-A
Biological sample resources BioSamples; SAMEA111396557
Encyclopedic resources Wikidata; Q114312747
Entry history
Entry creation22-Sep-2022
Last entry update19-Dec-2024
Version number6