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Cellosaurus SDQLCHi055-A (CVCL_C8DZ)

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Cell line name SDQLCHi055-A
Accession CVCL_C8DZ
Resource Identification Initiative To cite this cell line use: SDQLCHi055-A (RRID:CVCL_C8DZ)
Comments From: Qilu Children's Hospital of Shandong University; Jinan; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:2514; CTNNB1; Simple; p.Leu285Ter (c.854T>A); Zygosity=Heterozygous (PubMed=38364504).
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 3Y
Category Induced pluripotent stem cell
Publications

PubMed=38364504; DOI=10.1016/j.scr.2024.103335
Ya-Nan Yang, Chen Liu, Ning Liu, Xiao-Meng Yang, Yi Liu, Zhong-Tao Gai;
Generation and characterization of PBMCs-derived human induced pluripotent stem cell (iPSC) line SDQLCHi055-A from a patient with NEDSDV carrying a heterozygote mutation in the CTNNB1 gene.
Stem Cell Res. 76:103335-103335(2024)

Cross-references
Cell line databases/resources hPSCreg; SDQLCHi055-A
Encyclopedic resources Wikidata; Q123033463
Entry history
Entry creation29-Jun-2023
Last entry update19-Dec-2024
Version number4