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Cellosaurus LUMCi004-A-3 (CVCL_E3P8)

[Text version]
Cell line name LUMCi004-A-3
Synonyms IsoLUMC0099iXPA-B8; LUMCi099_XPA_B8
Accession CVCL_E3P8
Resource Identification Initiative To cite this cell line use: LUMCi004-A-3 (RRID:CVCL_E3P8)
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:12814; XPA; Simple_edited; p.Arg228Ter (c.682C>T); ClinVar=VCV000000995; Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=39321748).
Disease Xeroderma pigmentosum, complementation group A (NCIt: C3965)
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
Publications

PubMed=39321748; DOI=10.1016/j.scr.2024.103564
Widyastuti H.P., van der Vaart B., Pachis S.T., Freund C.M.A.H., Gidrol X., Raymond K.
Generation of XPA p.Arg228T mutant LUMCi004-A cell line for modeling xeroderma pigmentosum group A.
Stem Cell Res. 81:103564-103564(2024)

Cross-references
Cell line databases/resources hPSCreg; LUMCi004-A-3
Biological sample resources BioSamples; SAMEA115580244
Entry history
Entry creation19-Dec-2024
Last entry update19-Dec-2024
Version number1