Cellosaurus cell line UNINAi001-A (CVCL

Cross-references
Cell line name	UNINAi001-A
Synonyms	Q3HOMOFS1
Accession	CVCL_A6XR
Resource Identification Initiative	To cite this cell line use: UNINAi001-A (RRID:CVCL_A6XR)
Comments	From: University of Naples Federico II; Napoli; Italy. Population: Moroccan. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:6297; KCNQ3; Simple; p.Phe534Ilefs*15 (c.1599dupT); ClinVar=VCV000205978; Zygosity=Homozygous (PubMed=33799276).
Disease	Mental retardation (NCIt: C84392) Seizure disorder (NCIt: C3020)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_A6XS ! UNINAi001-B
Sex of cell	Male
Age at sampling	15Y
Category	Induced pluripotent stem cell
Publications	PubMed=33799276; DOI=10.1016/j.scr.2021.102311 Longobardi E., Miceli F., Secondo A., Cicatiello R., Izzo A., Tinto N., Moutton S., Tran Mau-Them F., Vitobello A., Taglialatela M. 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. Stem Cell Res. 53:102311-102311(2021)
Cell line databases/resources	hPSCreg; UNINAi001-A
Encyclopedic resources	Wikidata; Q107117343
Entry history
Entry creation	20-May-2021
Last entry update	19-Dec-2024
Version number	6