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Cellosaurus CTUi005-A (CVCL_E3U6)

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Cell line name CTUi005-A
Synonyms RD001
Accession CVCL_E3U6
Resource Identification Initiative To cite this cell line use: CTUi005-A (RRID:CVCL_E3U6)
Comments From: Shandong Medicinal Biotechnology Center, Shandong First Medical 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.Arg500Argfs*30 (c.1498_1499insG); Zygosity=Heterozygous (PubMed=38972232).
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 Female
Age at sampling 1Y
Category Induced pluripotent stem cell
Publications

PubMed=38972232; DOI=10.1016/j.scr.2024.103487
Jia-Ying Ning, Tian-Cheng Zhou, Xian-Qiong Luo, Jian Ma, Zhi-Shuai Zhang, Li-Wei Gao, Yan-Ling Zhu;
Establishment of an iPSC line from a NDD patient with a heterozygous mutation in the CTNNB1 gene.
Stem Cell Res. 79:103487-103487(2024)

Cross-references
Cell line databases/resources hPSCreg; CTUi005-A
Biological sample resources BioSamples; SAMEA115676025
Entry history
Entry creation19-Dec-2024
Last entry update19-Dec-2024
Version number1