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Cellosaurus NENCKIi001-A (CVCL_E4HF)

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Cell line name NENCKIi001-A
Synonyms MPAN-3.1
Accession CVCL_E4HF
Resource Identification Initiative To cite this cell line use: NENCKIi001-A (RRID:CVCL_E4HF)
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 16Y
Category Induced pluripotent stem cell
Publications

PubMed=39489009; DOI=10.1016/j.scr.2024.103603
Ewelina Krogulec, Aneta Maria Dobosz, Ewa Liszewska, Lena Majchrowicz, Agnieszka Dobrzyn;
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; NENCKIi001-A
Biological sample resources BioSamples; SAMEA115772287
Entry history
Entry creation19-Dec-2024
Last entry update19-Dec-2024
Version number1