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Cellosaurus NENCKIi004-A (CVCL_E4HI)

[Text version]
Cell line name NENCKIi004-A
Synonyms MPAN-22.3
Accession CVCL_E4HI
Resource Identification Initiative To cite this cell line use: NENCKIi004-A (RRID:CVCL_E4HI)
Comments From: Nencki Institute of Experimental Biology PAS; Warsaw; Poland.
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:25443; C19orf12; Simple; p.Gly58Argfs*10 (c.171_181del11) (p.Gly69Argfs*10, c.204_214del11); ClinVar=VCV000031155; Zygosity=Homozygous (PubMed=39489009).
Disease Neurodegeneration with brain iron accumulation 4 (NCIt: C175707)
Mitochondrial membrane protein-associated neurodegeneration (ORDO: Orphanet_289560)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 25Y
Category Induced pluripotent stem cell
Publications

PubMed=39489009; DOI=10.1016/j.scr.2024.103603
Krogulec E., Dobosz A.M., Liszewska E., Majchrowicz L., Dobrzyn A.
Generation of four human induced pluripotent stem cell lines derived from patients with MPAN, subtype of NBIA, carrying the c.204_214del11 mutation in the C19orf12 gene.
Stem Cell Res. 81:103603-103603(2024)

Cross-references
Cell line databases/resources hPSCreg; NENCKIi004-A
Biological sample resources BioSamples; SAMEA115779529
Entry history
Entry creation19-Dec-2024
Last entry update19-Dec-2024
Version number1