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Cellosaurus UNINAi001-A (CVCL_A6XR)

[Text version]
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; 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)

Cross-references
Cell line databases/resources hPSCreg; UNINAi001-A
Encyclopedic resources Wikidata; Q107117343
Entry history
Entry creation20-May-2021
Last entry update29-Jun-2023
Version number5