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Cellosaurus HIHCNi003-A (CVCL_VL40)

[Text version]

Cell line name HIHCNi003-A
Synonyms iPSC-ALSP
Accession CVCL_VL40
Resource Identification Initiative To cite this cell line use: HIHCNi003-A (RRID:CVCL_VL40)
Comments From: Hertie Institute for Clinical Brain Research and German Center for Neurodegenerative Diseases, University of Tubingen; Tubingen; Germany.
Derived from sampling site: Skin. Cell type=Fibroblast.
Sequence variations
  • Mutation; HGNC; 2433; CSF1R; Simple; p.Val838Leu (c.2512G>C); ClinVar=VCV000162121; Zygosity=Heterozygous (PubMed=29980109).
Disease Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (NCIt: C153289)
Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia (ORDO: Orphanet_313808)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 55Y
Category Induced pluripotent stem cell
Publications

PubMed=29980109; DOI=10.1016/j.scr.2018.06.011
Hayer S.N., Schelling Y., Hoeflinger P., Hauser S., Schols L.
Generation of an induced pluripotent stem cell line from a patient with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP): HIHCNi003-A.
Stem Cell Res. 30:206-209(2018)

Cross-references
Cell line databases/resources hPSCreg; HIHCNi003-A
Encyclopedic resources Wikidata; Q94208301
Entry history
Entry creation07-Sep-2018
Last entry update17-Mar-2022
Version number6