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Cellosaurus LUMCi045-A-1 (CVCL_A7RY)

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Cell line name LUMCi045-A-1
Synonyms iso01LUMC0145iKLHL01
Accession CVCL_A7RY
Resource Identification Initiative To cite this cell line use: LUMCi045-A-1 (RRID:CVCL_A7RY)
Comments From: Leiden University Medical Center; Leiden; Netherlands.
Population: Chilean.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:25947; KLHL24; Simple_corrected; p.Met1Arg (c.2T>G); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=34688992).
  • Mutation; HGNC; HGNC:25947; KLHL24; Simple_edited; p.Val2Val (c.6A>C); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=34688992).
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_A7QR (LUMCi045-A)
Sex of cell Male
Age at sampling 33Y
Category Induced pluripotent stem cell
Publications

PubMed=34688992; DOI=10.1016/j.scr.2021.102582
Veronika Ramovs, Ignacia Fuentes, Christian M.A.H. Freund, Harald M.M. Mikkers, Christine Lindsay Mummery, Karine Raymond;
Generation and genetic repair of two human induced pluripotent cell lines from patients with epidermolysis bullosa simplex and dilated cardiomyopathy associated with a heterozygous mutation in the translation initiation codon of KLHL24.
Stem Cell Res. 57:102582-102582(2021)

Cross-references
Cell line databases/resources hPSCreg; LUMCi045-A-1
Biological sample resources BioSamples; SAMEA8868395
Encyclopedic resources Wikidata; Q107115881
Entry history
Entry creation20-May-2021
Last entry update19-Dec-2024
Version number6