ID   SBWCHi001-A
AC   CVCL_A2XU
SY   CTNNB1-C7
DR   BioSamples; SAMEA7655482
DR   hPSCreg; SBWCHi001-A
DR   Wikidata; Q105510980
RX   PubMed=33264726;
CC   From: Shenzhen Baoan Women's and Children's Hospital, Jinan University; Shenzhen; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 2514; CTNNB1; Simple; p.Tyr333Ter (c.999C>A); ClinVar=VCV000450550; Zygosity=Heterozygous (PubMed=33264726).
CC   Derived from sampling site: Peripheral blood.
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
SX   Male
AG   1Y6M
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 20-05-21; Version: 2
//
RX   PubMed=33264726; DOI=10.1016/j.scr.2020.102091;
RA   Yan R., Liu P.-Y., Li F.-K., Chu M., Lei J.-F., Wang F., Luo L.-P.,
RA   Xu X.-Q.;
RT   "Generation of a human induced pluripotent stem cell line
RT   (SBWCHi001-A) from a patient with NEDSDV carrying a pathogenic
RT   mutation in CTNNB1 gene.";
RL   Stem Cell Res. 49:102091-102091(2020).
//