ID   UNINAi001-B
AC   CVCL_A6XS
DR   hPSCreg; UNINAi001-B
DR   Wikidata; Q107117344
CC   From: University of Naples Federico II; Napoli; Italy.
CC   Population: Moroccan.
CC   Sequence variation: Mutation; HGNC; 6297; KCNQ3; Simple; p.Phe534Ilefs*15 (c.1599dupT); ClinVar=VCV000205978; Zygosity=Homozygous (from autologous cell line UNINAi001-A).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84392; Mental retardation
DI   NCIt; C3020; Seizure disorder
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_A6XR ! UNINAi001-A
SX   Male
AG   15Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 6
//