ID   SDQLCHi055-A
AC   CVCL_C8DZ
DR   hPSCreg; SDQLCHi055-A
DR   Wikidata; Q123033463
RX   PubMed=38364504;
CC   From: Qilu Children's Hospital of Shandong University; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; HGNC:2514; CTNNB1; Simple; p.Leu285Ter (c.854T>A); Zygosity=Heterozygous (PubMed=38364504).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C176897; Neurodevelopmental disorder with spastic diplegia and visual defects
DI   ORDO; Orphanet_404473; Severe intellectual disability-progressive spastic diplegia syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   3Y
CA   Induced pluripotent stem cell
DT   Created: 29-06-23; Last updated: 19-12-24; Version: 4
//
RX   PubMed=38364504; DOI=10.1016/j.scr.2024.103335;
RA   Yang, Ya-Nan
RA   Liu, Chen
RA   Liu, Ning
RA   Yang, Xiao-Meng
RA   Liu, Yi
RA   Gai, Zhong-Tao
RT   "Generation and characterization of PBMCs-derived human induced
RT   pluripotent stem cell (iPSC) line SDQLCHi055-A from a patient with
RT   NEDSDV carrying a heterozygote mutation in the CTNNB1 gene.";
RL   Stem Cell Res. 76:103335-103335(2024).
//