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Cellosaurus LUMCi004-A-4 (CVCL_E4H5)

[Text version]
Cell line name LUMCi004-A-4
Synonyms LUMCi099_XPC_D10
Accession CVCL_E4H5
Resource Identification Initiative To cite this cell line use: LUMCi004-A-4 (RRID:CVCL_E4H5)
Comments From: Leiden University Medical Center; Leiden; Netherlands.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:12816; XPC; Simple_edited; p.Gln467Ter (c.1399C>T); ClinVar=VCV003240754; Zygosity=Homozygous; Note=By CRISPR/Cas9 (hPSCreg=LUMCi004-A-4).
Disease Xeroderma pigmentosum, complementation group C (NCIt: C114770)
Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_UK77 (LUMCi004-A)
Sex of cell Female
Age at sampling 29Y
Category Induced pluripotent stem cell
Cross-references
Cell line databases/resources hPSCreg; LUMCi004-A-4
Biological sample resources BioSamples; SAMEA115580245
Entry history
Entry creation19-Dec-2024
Last entry update19-Dec-2024
Version number1