Cellosaurus logo
expasy logo

Cellosaurus JTUi001-A (CVCL_YP16)

[Text version]
Cell line name JTUi001-A
Accession CVCL_YP16
Resource Identification Initiative To cite this cell line use: JTUi001-A (RRID:CVCL_YP16)
Comments From: Sixth People's Hospital, Shanghai Jiao Tong University; Shanghai; China.
Population: Chinese; Han.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 20626; CHD7; Simple; p.Leu1151Glyfs*17 (c.3449_3450delTC); Zygosity=Heterozygous; Note=De novo mutation (PubMed=32247258).
Disease CHARGE syndrome (NCIt: C75100)
CHARGE syndrome (ORDO: Orphanet_138)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 1-2Y
Category Induced pluripotent stem cell

PubMed=32247258; DOI=10.1016/j.scr.2020.101774
He S.-H., Hu J.-T., Zheng Z., Wang J.-J., Chen J.-L., Zhang C., Li L., Wang J.-P., Chen Z.-N., Shi H.-B., Wang J.-F.
Establishment of an induced pluripotent stem cell line from a patient with CHARGE syndrome carrying a CHD7 (p.L1151Gfs*17) mutation.
Stem Cell Res. 45:101774-101774(2020)

Cell line databases/resources hPSCreg; JTUi001-A
SKIP; SKIP005786
Biological sample resources BioSamples; SAMEA6602307
Encyclopedic resources Wikidata; Q94332505
Entry history
Entry creation12-Mar-2020
Last entry update29-Jun-2023
Version number8