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Cellosaurus ARSA-/- immortalized MSC (CVCL_YP18)

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Cell line name ARSA-/- immortalized MSC
Accession CVCL_YP18
Resource Identification Initiative To cite this cell line use: ARSA-/- immortalized MSC (RRID:CVCL_YP18)
Comments Genetic integration: Method=Transfection/transduction; Gene=FPbase; ZRLU4; CFP (Note=Cyan fluorescent protein derived from GFP).
Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
Derived from site: In situ; Bone marrow; UBERON=UBERON_0002371.
Cell type: Mesenchymal stem cell of bone marrow; CL=CL_0002540.
Sequence variations
  • Mutation; HGNC; HGNC:713; ARSA; Simple; p.Arg246His (c.737G>A) (p.Arg244His, c.731G>A); ClinVar=VCV000068148; Zygosity=Heterozygous (PubMed=28762252).
  • Mutation; HGNC; HGNC:713; ARSA; Simple; p.Glu309Lys (c.925G>A) (p.Glu307Lys, c.919G>A); ClinVar=VCV000068162; Zygosity=Heterozygous (PubMed=28762252).
Disease Metachromatic leukodystrophy (NCIt: C61251)
Metachromatic leukodystrophy (ORDO: Orphanet_512)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Sex unspecified
Age at sampling Children
Category Transformed cell line
Publications

PubMed=28762252; DOI=10.1002/humu.23306
Judith Bohringer, Rene Santer, Neele Schumacher, Friederike Gieseke, Kerstin Cornils, Maria Pechan, Birgit Kustermann-Kuhn, Rupert Handgretinger, Ludger Schols, Klaus Harzer, Ingeborg Krageloh-Mann, Ingo Muller;
Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A-deficient immortalized mesenchymal stromal cells.
Hum. Mutat. 38:1511-1520(2017)

Cross-references
Encyclopedic resources Wikidata; Q93325958
Entry history
Entry creation12-Mar-2020
Last entry update19-Dec-2024
Version number10