ID   ARSA-/- immortalized MSC
AC   CVCL_YP18
DR   Wikidata; Q93325958
RX   PubMed=28762252;
CC   Sequence variation: Mutation; HGNC; HGNC:713; ARSA; Simple; p.Arg246His (c.737G>A) (p.Arg244His, c.731G>A); ClinVar=VCV000068148; Zygosity=Heterozygous (PubMed=28762252).
CC   Sequence variation: Mutation; HGNC; HGNC:713; ARSA; Simple; p.Glu309Lys (c.925G>A) (p.Glu307Lys, c.919G>A); ClinVar=VCV000068162; Zygosity=Heterozygous (PubMed=28762252).
CC   Genetic integration: Method=Transfection/transduction; Gene=FPbase; ZRLU4; CFP (Note=Cyan fluorescent protein derived from GFP).
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
CC   Derived from site: In situ; Bone marrow; UBERON=UBERON_0002371.
CC   Cell type: Mesenchymal stem cell of bone marrow; CL=CL_0002540.
DI   NCIt; C61251; Metachromatic leukodystrophy
DI   ORDO; Orphanet_512; Metachromatic leukodystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Sex unspecified
AG   Children
CA   Transformed cell line
DT   Created: 12-03-20; Last updated: 19-12-24; Version: 10
//
RX   PubMed=28762252; DOI=10.1002/humu.23306;
RA   Bohringer J., Santer R., Schumacher N., Gieseke F., Cornils K.,
RA   Pechan M., Kustermann-Kuhn B., Handgretinger R., Schols L., Harzer K.,
RA   Krageloh-Mann I., Muller I.;
RT   "Enzymatic characterization of novel arylsulfatase A variants using
RT   human arylsulfatase A-deficient immortalized mesenchymal stromal
RT   cells.";
RL   Hum. Mutat. 38:1511-1520(2017).
//