ID   UNINAi001-A
AC   CVCL_A6XR
SY   Q3HOMOFS1
DR   hPSCreg; UNINAi001-A
DR   Wikidata; Q107117343
RX   PubMed=33799276;
CC   From: University of Naples Federico II; Napoli; Italy.
CC   Population: Moroccan.
CC   Sequence variation: Mutation; HGNC; HGNC:6297; KCNQ3; Simple; p.Phe534Ilefs*15 (c.1599dupT); ClinVar=VCV000205978; Zygosity=Homozygous (PubMed=33799276).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84392; Intellectual developmental disorder
DI   NCIt; C3020; Seizure disorder
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_A6XS ! UNINAi001-B
SX   Male
AG   15Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 27-11-25; Version: 7
//
RX   PubMed=33799276; DOI=10.1016/j.scr.2021.102311;
RA   Longobardi, Elena
RA   Miceli, Francesco
RA   Secondo, Agnese
RA   Cicatiello, Rita
RA   Izzo, Antonella
RA   Tinto, Nadia
RA   Moutton, Sebastien
RA   Tran Mau-Them, Frederic
RA   Vitobello, Antonio
RA   Taglialatela, Maurizio
RT   "Generation of an iPSC line (UNINAi001-A) from a girl with
RT   neonatal-onset epilepsy and non-syndromic intellectual disability
RT   carrying the homozygous KCNQ3 p.PHE534ILEfs*15 variant and of an iPSC
RT   line (UNINAi002-A) from a non-carrier, unaffected brother.";
RL   Stem Cell Res. 53:102311-102311(2021).
//