• Mutation; HGNC; 713; ARSA; Simple; p.Thr393Ser (c.1178C>G) (p.Thr391Ser, c.1172C>G); ClinVar=VCV000021184; Zygosity=Heterozygous (PubMed=32950023).
  

DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977)

PubMed=36611; DOI=10.1073/pnas.76.4.1957
DeLuca C., Brown J.A., Shows T.B.
Lysosomal arylsulfatase deficiencies in humans: chromosome assignments for arylsulfatase A and B.
Proc. Natl. Acad. Sci. U.S.A. 76:1957-1961(1979)

PubMed=6132606; DOI=10.1016/0006-291x(83)91816-8
Bach G., Neufeld E.F.
Synthesis and maturation of cross-reactive glycoprotein in fibroblasts deficient in arylsulfatase A activity.
Biochem. Biophys. Res. Commun. 112:198-205(1983)

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

PubMed=32950023; DOI=10.1016/j.scr.2020.101993
Kim K.-P., Yoon J., Kim J., Ropke A., Shin B., Han D.W., Greber B., Scholer H.R.
Generation of a human iPSC line (MPIi007-A) from a patient with metachromatic leukodystrophy.
Stem Cell Res. 48:101993-101993(2020)