Cellosaurus cell line HMGUi004-A (CVCL

Cross-references
Cell line name	HMGUi004-A
Synonyms	106300
Accession	CVCL_C9D6
Resource Identification Initiative	To cite this cell line use: HMGUi004-A (RRID:CVCL_C9D6)
Comments	From: Helmholtz Zentrum Munchen; Neuherberg; Germany. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:25443; C19orf12; Simple; p.Gly54Val (c.161G>T); ClinVar=VCV000402183; Zygosity=Homozygous (PubMed=37689041).
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	Female
Age at sampling	Age unspecified
Category	Induced pluripotent stem cell
Publications	PubMed=37689041; DOI=10.1016/j.scr.2023.103197 Enrica Zanuttigh, Ejona Rusha, Camille Peron, Dario Brunetti, Giovanna Zorzi, Anna Pertek, Polyxeni Nteli, Juliane Winkelmann, Valeria Tiranti, Arcangela Iuso; Generation of two human iPSC lines, HMGUi004-A and FINCBi004-A, from fibroblasts of MPAN patients carrying pathogenic recessive mutations in the gene C19orf12. Stem Cell Res. 72:103197-103197(2023)
Cell line databases/resources	hPSCreg; HMGUi004-A
Biological sample resources	BioSamples; SAMEA113476113
Encyclopedic resources	Wikidata; Q123031678
Entry history
Entry creation	05-Oct-2023
Last entry update	19-Dec-2024
Version number	3