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Cellosaurus SBWCHi001-A (CVCL_A2XU)

[Text version]

Cell line name SBWCHi001-A
Synonyms CTNNB1-C7
Accession CVCL_A2XU
Resource Identification Initiative To cite this cell line use: SBWCHi001-A (RRID:CVCL_A2XU)
Comments From: Shenzhen Baoan Women's and Children's Hospital, Jinan University; Shenzhen; China.
Population: Chinese; Han.
Derived from sampling site: Peripheral blood.
Sequence variations Mutation; HGNC; 2514; CTNNB1; Simple; p.Tyr333Ter (c.999C>A); ClinVar=VCV000450550; Zygosity=Heterozygous (PubMed=33264726).
Disease Neurodevelopmental disorder with spastic diplegia and visual defects (NCIt: C176897)
Severe intellectual disability-progressive spastic diplegia syndrome (ORDO: Orphanet_404473)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 1Y6M
Category Induced pluripotent stem cell
Publications

PubMed=33264726; DOI=10.1016/j.scr.2020.102091
Yan R., Liu P.-Y., Li F.-K., Chu M., Lei J.-F., Wang F., Luo L.-P., Xu X.-Q.
Generation of a human induced pluripotent stem cell line (SBWCHi001-A) from a patient with NEDSDV carrying a pathogenic mutation in CTNNB1 gene.
Stem Cell Res. 49:102091-102091(2020)

Cross-references
Cell line databases/resources hPSCreg; SBWCHi001-A
Biological sample resources BioSamples; SAMEA7655482
Other Wikidata; Q105510980
Entry history
Entry creation12-Jan-2021
Last entry update20-May-2021
Version number2