6533b826fe1ef96bd128490d
RESEARCH PRODUCT
Generation of an iPSC line (UNINAi001-A) from a girl with neonatal-onset epilepsy and non-syndromic intellectual disability carrying the homozygous KCNQ3 p.PHE534ILEfs*15 variant and of an iPSC line (UNINAi002-A) from a non-carrier, unaffected brother
Nadia TintoFrancesco MiceliFrédéric Tran Mau-themRita CicatielloAgnese SecondoAntonio VitobelloElena LongobardiMaurizio TaglialatelaSebastien MouttonAntonella Izzosubject
Male0301 basic medicineProbandQH301-705.5Induced Pluripotent Stem CellsBiology03 medical and health sciencesEpilepsyExon0302 clinical medicineIntellectual DisabilityGene duplicationIntellectual disabilitymedicineHumansBiology (General)ChildInduced pluripotent stem cellEpilepsySiblingsHomozygoteCell DifferentiationKaryotypeCell BiologyGeneral Medicinemedicine.diseaseEmbryonic stem cell030104 developmental biologyCancer researchFemale030217 neurology & neurosurgeryDevelopmental Biologydescription
Abstract Heterozygous variants in the KCNQ3 gene cause epileptic and/or developmental disorders of varying severity. Here we describe the generation of induced pluripotent stem cells (iPSCs) from a 9-year-old girl with pharmacodependent neonatal-onset epilepsy and intellectual disability who carry a homozygous single-base duplication in exon 12 of KCNQ3 (NM_004519.3: KCNQ3 c.1599dup; KCNQ3 p.PHE534ILEfs*15), and from a non-carrier brother of the proband. For iPSC generation, non-integrating episomal plasmid vectors were used to transfect fibroblasts isolated from skin biopsies. The obtained iPSC lines had a normal karyotype, showed embryonic stem cell-like morphology, expressed pluripotency markers, and possessed trilineage differentiation potential.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2021-05-01 |