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Cellosaurus LUMCi046-A-1 (CVCL_A7RZ)

[Text version]
Cell line name LUMCi046-A-1
Synonyms iso2LUMC0146iKLHL10
Accession CVCL_A7RZ
Resource Identification Initiative To cite this cell line use: LUMCi046-A-1 (RRID:CVCL_A7RZ)
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; 25947; KLHL24; Simple_edited; c.-3A>G; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=34688992).
  • Mutation; HGNC; 25947; KLHL24; Simple_corrected; p.Met1Arg (c.2T>G); 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_A7QS (LUMCi046-A)
Sex of cell Male
Age at sampling 25Y
Category Induced pluripotent stem cell
Publications

PubMed=34688992; DOI=10.1016/j.scr.2021.102582
Ramovs V., Fuentes I., Freund C.M.A.H., Mikkers H.M.M., Mummery C.L., Raymond K.
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; LUMCi046-A-1
Biological sample resources BioSamples; SAMEA8868396
Encyclopedic resources Wikidata; Q107115884
Entry history
Entry creation20-May-2021
Last entry update29-Jun-2023
Version number5