Cellosaurus logo
expasy logo

Cellosaurus SDQLCHi079-A (CVCL_D6R0)

[Text][XML][JSON]
Cell line name SDQLCHi079-A
Accession CVCL_D6R0
Resource Identification Initiative To cite this cell line use: SDQLCHi079-A (RRID:CVCL_D6R0)
Comments From: Qilu Children's Hospital of Shandong University; Jinan; China.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:16808; UBR1; Simple; c.1911+14C>G; Zygosity=Heterozygous (PubMed=39053320).
  • Mutation; HGNC; HGNC:16808; UBR1; Simple; p.Ser1056Ter (c.3167C>G); Zygosity=Heterozygous (PubMed=39053320).
Disease Johanson-Blizzard syndrome (NCIt: C210826)
Johanson-Blizzard syndrome (ORDO: Orphanet_2315)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 2Y
Category Induced pluripotent stem cell
Publications

PubMed=39053320; DOI=10.1016/j.scr.2024.103505
Bin Wang, Lu Yang, Min Gao, Hai-Yan Zhang, Ai-Hua Ji, Guo-Hua Liu, Yi Liu;
Establishment of a human induced pluripotent stem cell line (SDQLCHi079-A) from a patient with Johanson-Blizzard syndrome carrying heterozygous mutation in UBR1 gene.
Stem Cell Res. 80:103505-103505(2024)

Cross-references
Cell line databases/resources hPSCreg; SDQLCHi079-A
Biological sample resources BioSamples; SAMEA115664991
Entry history
Entry creation10-Sep-2024
Last entry update19-Dec-2024
Version number2