ID   CTUi005-A
AC   CVCL_E3U6
SY   RD001
DR   BioSamples; SAMEA115676025
DR   hPSCreg; CTUi005-A
RX   PubMed=38972232;
CC   From: Shandong Medicinal Biotechnology Center, Shandong First Medical University; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; HGNC:2514; CTNNB1; Simple; p.Arg500Argfs*30 (c.1498_1499insG); Zygosity=Heterozygous (PubMed=38972232).
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   Female
AG   1Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-24; Last updated: 19-12-24; Version: 1
//
RX   PubMed=38972232; DOI=10.1016/j.scr.2024.103487;
RA   Ning, Jia-Ying
RA   Zhou, Tian-Cheng
RA   Luo, Xian-Qiong
RA   Ma, Jian
RA   Zhang, Zhi-Shuai
RA   Gao, Li-Wei
RA   Zhu, Yan-Ling
RT   "Establishment of an iPSC line from a NDD patient with a heterozygous
RT   mutation in the CTNNB1 gene.";
RL   Stem Cell Res. 79:103487-103487(2024).
//