Cellosaurus logo
expasy logo

Cellosaurus SHCMDLi001-A (CVCL_A8PJ)

[Text version]
Cell line name SHCMDLi001-A
Accession CVCL_A8PJ
Resource Identification Initiative To cite this cell line use: SHCMDLi001-A (RRID:CVCL_A8PJ)
Comments From: Shanghai Children's Hospital; Shanghai; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:20456; TRAF7; Simple; p.Arg655Gln (c.1964G>A); ClinVar=VCV000587685; Zygosity=Heterozygous; Note=De novo mutation (PubMed=34088006).
Disease Cardiac, facial, and digital anomalies with developmental delay (NCIt: C179868)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 12Y
Category Induced pluripotent stem cell
Publications

PubMed=34088006; DOI=10.1016/j.scr.2021.102377
Xiao-Zhen Song, Jin-Cai Feng, Xiao-Ping Lan, Xiao-Jun Tang, Wu-Hen Xu, Jun Shen, Guang-Jun Yu, Jia Jia, Hong Zhang, Qing Lu, Sheng-Nan Wu;
Generation and characterization of an iPSC line (SHCMDLi001-A) from a 12-year-old Chinese Han patient with TRAF7 syndrome and of an iPSC line (SHCMDLi002-A) from a control individual.
Stem Cell Res. 53:102377-102377(2021)

Cross-references
Cell line databases/resources hPSCreg; SHCMDLi001-A
Encyclopedic resources Wikidata; Q108821300
Entry history
Entry creation23-Sep-2021
Last entry update19-Dec-2024
Version number5