ID   FDCHi012-A
AC   CVCL_D6HX
SY   iPSCx-x-DYRK1A-m
DR   BioSamples; SAMEA114604817
DR   hPSCreg; FDCHi012-A
DR   Wikidata; Q127380843
RX   PubMed=38382213;
CC   From: Children's Hospital of Fudan University; Shanghai; China.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; 3091; DYRK1A; Simple; p.Gly348Trp (c.1042G>T); Zygosity=Heterozygous (PubMed=38382213).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C179708; Mental retardation, autosomal dominant 7
DI   ORDO; Orphanet_178469; Autosomal dominant non-syndromic intellectual disability
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   2Y1M
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 10-09-24; Version: 2
//
RX   PubMed=38382213; DOI=10.1016/j.scr.2024.103345;
RA   Ge Y.-Z., Cheng Y., Yin T.-T., Peng X.-S., Xiong Z.-M., Wu B.-B.,
RA   Wang H.-J., Xiong M., Zhou W.-H.;
RT   "Generation of a human induced pluripotent stem cell line (FDCHi012-A)
RT   from a patient with DYRK1A-related intellectual disability syndrome
RT   carrying DYRK1A mutation (c.1024G > T).";
RL   Stem Cell Res. 76:103345-103345(2024).
//