Cellosaurus cell line SBWCHi001-A (CVCL

Cross-references
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 site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; 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)
Cell line databases/resources	hPSCreg; SBWCHi001-A
Biological sample resources	BioSamples; SAMEA7655482
Encyclopedic resources	Wikidata; Q105510980
Entry history
Entry creation	12-Jan-2021
Last entry update	19-Dec-2024
Version number	5