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Cellosaurus LUMCi059-A (CVCL_E3PB)

[Text version]
Cell line name LUMCi059-A
Synonyms LUMCi232KLHL01
Accession CVCL_E3PB
Resource Identification Initiative To cite this cell line use: LUMCi059-A (RRID:CVCL_E3PB)
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
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 Children:
CVCL_E3PC (LUMCi059-A-1)
Sex of cell Male
Age at sampling 1Y
Category Induced pluripotent stem cell
Publications

PubMed=39317060; DOI=10.1016/j.scr.2024.103551
Pachis S.T., Ramovs V., Freund C.M.A.H., Has C., Raymond K.
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; LUMCi059-A
Biological sample resources BioSamples; SAMEA115597185
Entry history
Entry creation19-Dec-2024
Last entry update19-Dec-2024
Version number1