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Cellosaurus PUMCHi017-A (CVCL_B5S7)

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Cell line name PUMCHi017-A
Synonyms SRF-CHM01
Accession CVCL_B5S7
Resource Identification Initiative To cite this cell line use: PUMCHi017-A (RRID:CVCL_B5S7)
Comments From: Peking Union Medical College Hospital; Beijing; 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; HGNC:1940; CHM; Unexplicit; Ex1-2del; Zygosity=Hemizygous (PubMed=35032821).
Disease Choroideremia (NCIt: C34469)
Choroideremia (ORDO: Orphanet_180)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 10Y
Category Induced pluripotent stem cell
Publications

PubMed=35032821; DOI=10.1016/j.scr.2022.102661
Xiao-Xu Han, Shi-Jing Wu, Zi-Xi Sun, Tian Zhu, Xing Wei, Xuan Zou, Rui-Fang Sui;
Generation of a human induced pluripotent stem cell line PUMCHi017-A from a choroideremia patient with CHM mutation.
Stem Cell Res. 59:102661-102661(2022)

Cross-references
Cell line databases/resources hPSCreg; PUMCHi017-A
Encyclopedic resources Wikidata; Q112041630
Entry history
Entry creation17-Mar-2022
Last entry update19-Dec-2024
Version number5