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Cellosaurus LUMCi058-A (CVCL_E3P9)

[Text version]
Cell line name LUMCi058-A
Synonyms LUMCi231KLHL03
Accession CVCL_E3P9
Resource Identification Initiative To cite this cell line use: LUMCi058-A (RRID:CVCL_E3P9)
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_E3PA (LUMCi058-A-1)
Sex of cell Female
Age at sampling 19Y
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; LUMCi058-A
Biological sample resources BioSamples; SAMEA115597184
Entry history
Entry creation19-Dec-2024
Last entry update19-Dec-2024
Version number1