ID   GM00197
AC   CVCL_6B33
SY   GM-197; GM 197
DR   CLO; CLO_0025661
DR   Coriell; GM00197
DR   Wikidata; Q54836079
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=36611;
RX   PubMed=6132606;
RX   PubMed=32950023;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:713; ARSA; Simple; p.Thr393Ser (c.1178C>G) (p.Thr391Ser, c.1172C>G); ClinVar=VCV000021184; Zygosity=Heterozygous (PubMed=32950023).
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=32950023
ST   Amelogenin: X,Y
ST   CSF1PO: 11,13
ST   D13S317: 12,13
ST   D16S539: 9,13
ST   D18S51: 12
ST   D19S433: 15
ST   D21S11: 30.2,31.2
ST   D2S1338: 19,20
ST   D3S1358: 17,18
ST   D5S818: 11,12
ST   D7S820: 10,11
ST   D8S1179: 13,15
ST   FGA: 20,23
ST   TH01: 6,8
ST   TPOX: 8
ST   vWA: 16,18
DI   NCIt; C61251; Metachromatic leukodystrophy
DI   ORDO; Orphanet_512; Metachromatic leukodystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   4Y
CA   Finite cell line
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 11
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//
RX   DOI=10.5962/bhl.title.4090;
RA   Coriell L.L., Greene A.E.;
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 4th edition. October 1977.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977).
//
RX   PubMed=36611; DOI=10.1073/pnas.76.4.1957; PMCID=PMC383512;
RA   DeLuca C., Brown J.A., Shows T.B.;
RT   "Lysosomal arylsulfatase deficiencies in humans: chromosome
RT   assignments for arylsulfatase A and B.";
RL   Proc. Natl. Acad. Sci. U.S.A. 76:1957-1961(1979).
//
RX   PubMed=6132606; DOI=10.1016/0006-291x(83)91816-8;
RA   Bach G., Neufeld E.F.;
RT   "Synthesis and maturation of cross-reactive glycoprotein in
RT   fibroblasts deficient in arylsulfatase A activity.";
RL   Biochem. Biophys. Res. Commun. 112:198-205(1983).
//
RX   PubMed=32950023; DOI=10.1016/j.scr.2020.101993;
RA   Kim K.-P., Yoon J., Kim J., Ropke A., Shin B., Han D.W., Greber B.,
RA   Scholer H.R.;
RT   "Generation of a human iPSC line (MPIi007-A) from a patient with
RT   metachromatic leukodystrophy.";
RL   Stem Cell Res. 48:101993-101993(2020).
//