ID   FDCHi005-B
AC   CVCL_A5EY
SY   iPSCx-y-DYRK1A-m; iPSCx-y-DYRK1A-c
DR   hPSCreg; FDCHi005-B
DR   Wikidata; Q107114960
RX   PubMed=33813175;
CC   From: Children's Hospital of Fudan University; Shanghai; China.
CC   Sequence variation: Mutation; HGNC; HGNC:3091; DYRK1A; Simple_corrected; p.Val577Asp (c.1730T>A); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=33813175).
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)
HI   CVCL_A5EX ! FDCHi005-A
SX   Male
AG   2Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 19-12-24; Version: 6
//
RX   PubMed=33813175; DOI=10.1016/j.scr.2021.102305;
RA   Ma L., Wu Z.-Y., Tang Q.-Y., Ji X.-L., Mei Y.-T., Peng T., Xu Q.,
RA   Zhou W.-H., Xiong M.;
RT   "Generation of an induced pluripotent stem cell line from a patient
RT   with global development delay carrying DYRK1A mutation (c.1730T>A) and
RT   a gene correction isogenic iPSC line.";
RL   Stem Cell Res. 53:102305-102305(2021).
//