ID   UOCi003-A
AC   CVCL_D0P0
SY   GPiPSC 31-1
DR   BioSamples; SAMEA114284527
DR   hPSCreg; UOCi003-A
DR   Wikidata; Q123033753
RX   PubMed=38364506;
CC   From: University of Calgary; Calgary; Canada.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:2550; CELF2; Simple; p.Arg506His (c.1517G>A) (p.Arg493His, c.1478G>A) (c.1554G>A); ClinVar=VCV001334733; Zygosity=Heterozygous; Note=De novo mutation (PubMed=38364506).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C206520; Developmental and epileptic encephalopathy 97
DI   ORDO; Orphanet_442835; Non-specific early-onset epileptic encephalopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   5Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 19-12-24; Version: 4
//
RX   PubMed=38364506; DOI=10.1016/j.scr.2024.103344;
RA   Hua M., Williams L., Burns K., Liu S.-Y., Ellis J., Innes A.M.,
RA   McPherson M., Yang G.;
RT   "Generation and characterization of a human iPSC line and
RT   gene-corrected isogenic line derived from a patient with a CELF2 gene
RT   mutation.";
RL   Stem Cell Res. 76:103344-103344(2024).
//