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Cellosaurus SIPDi001-A (CVCL_C1WU)

[Text version]
Cell line name SIPDi001-A
Accession CVCL_C1WU
Resource Identification Initiative To cite this cell line use: SIPDi001-A (RRID:CVCL_C1WU)
Comments From: Shaanxi Institute of Pediatric Diseases; Xi'an; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 20344; UBR7; Simple; p.Ser19Argfs*42 (c.35_54dup); ClinVar=VCV001294425; Zygosity=Heterozygous (PubMed=37478672).
  • Mutation; HGNC; 20344; UBR7; Simple; p.Leu288Pro (c.863T>C); ClinVar=VCV001292050; Zygosity=Heterozygous (PubMed=37478672).
Disease Li-Campeau syndrome (NCIt: C201589)
Non-specific syndromic intellectual disability (ORDO: Orphanet_528084)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 7Y
Category Induced pluripotent stem cell
Publications

PubMed=37478672; DOI=10.1016/j.scr.2023.103165
Li B.-C., Zhou Y.-F., Che F.-Y., Zhou R., Mo L.-Z., Zhang L.-Y., Wang G.-X., Yang Y.
Establishment of a novel human induced pluripotent stem cell line (SIPDi001-A) with compound heterozygous mutations in the UBR7 gene from a Li-Campeau syndrome patient.
Stem Cell Res. 71:103165-103165(2023)

Cross-references
Cell line databases/resources hPSCreg; SIPDi001-A
Biological sample resources BioSamples; SAMEA12936824
Encyclopedic resources Wikidata; Q114313019
Entry history
Entry creation22-Sep-2022
Last entry update05-Oct-2023
Version number4