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Cellosaurus LUMCi058-A-1 (CVCL_E3PA)

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Cell line name LUMCi058-A-1
Synonyms Iso35LUMCi231KLHL03
Accession CVCL_E3PA
Resource Identification Initiative To cite this cell line use: LUMCi058-A-1 (RRID:CVCL_E3PA)
Comments From: Leiden University Medical Center; Leiden; Netherlands.
Population: Caucasian.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:25947; KLHL24; Simple_corrected; p.Met1Val (c.1A>G); ClinVar=VCV000264648; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=39317060).
Disease Intermediate epidermolysis bullosa simplex with cardiomyopathy (NCIt: C179709)
Intermediate epidermolysis bullosa simplex with cardiomyopathy (ORDO: Orphanet_508529)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_E3P9 (LUMCi058-A)
Sex of cell Female
Age at sampling 19Y
Category Induced pluripotent stem cell
Publications

PubMed=39317060; DOI=10.1016/j.scr.2024.103551
Spyridon Thomas Pachis, Veronika Ramovs, Christian M.A.H. Freund, Cristina Has, Karine Raymond;
Generation and genetic repair of two human induced pluripotent stem cell lines from patients with epidermolysis bullosa simplex associated with a heterozygous mutation in the translation initiation codon of KLHL24.
Stem Cell Res. 81:103551-103551(2024)

Cross-references
Cell line databases/resources hPSCreg; LUMCi058-A-1
Biological sample resources BioSamples; SAMEA115597186
Entry history
Entry creation19-Dec-2024
Last entry update19-Dec-2024
Version number1