NA00197
DNA from Fibroblast
Description:
METACHROMATIC LEUKODYSTROPHY
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of Lipid Metabolism |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Arm
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
DNA from Fibroblast
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
6 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
| |
| cerebroside-sulfatase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.1.6.8 |
| |
| Remarks |
Clinically affected with infantile type; homozygous; significantly increased sulfatide excretion in urine; deficient arysulfatase A; two similarly affected siblings (brother is GM00200, other sibling not in repository); unaffected father is GM00196; |
| Hossain MA, Hasegawa-Ogawa M, Manome Y, Igarashi M, Wu C, Suzuki K, Igarashi J, Iwamoto T, Okano HJ, Eto Y, Generation and characterization of motor neuron progenitors and motor neurons using metachromatic leukodystrophy-induced pluripotent stem cells Molecular genetics and metabolism reports31:100852 2022 |
| PubMed ID: 35782608 |
| |
| Kim KP, Yoon J, Kim J, Röpke A, Shin B, Wook Han D, Greber B, Schöler HR, Generation of a human iPSC line (MPIi007-A) from a patient with Metachromatic leukodystrophy Stem cell research48:101993 2020 |
| PubMed ID: 32950023 |
| |
| Takakusaki Y, Hisayasu S, Hirai Y, Shimada T, Coexpression of formylglycine-generating enzyme is essential for synthesis and secretion of functional arylsulfatase A in a mouse model of metachromatic leukodystrophy Human gene therapy16:929-36 2005 |
| PubMed ID: 16076251 |
| |
| Bach G, Neufeld EF, Synthesis and maturation of cross-reactive glycoprotein in fibroblasts deficient in arylsulfatase A activity. Biochem Biophys Res Commun112:198-205 1983 |
| PubMed ID: 6132606 |
| |
| Epstein EH Jr, Leventhal ME, Steroid sulfatase of human leukocytes and epidermis and the diagnosis of recessive X-linked ichthyosis. J Clin Invest67:1257-62 1981 |
| PubMed ID: 6939689 |
| |
| Koch G, Lalley PA, McAvoy M, Shows TB, Assignment of LIPA, associated with human acid lipase deficiency, to human chromosome 10 and comparative assignment to mouse chromosome 19. Somatic Cell Genet7:345-58 1981 |
| PubMed ID: 7292252 |
| |
| Naylor SL, Shows TB, Branched-chain aminotransferase deficiency in Chinese hamster cells complemented by two independent genes on human chromosomes 12 and 19. Somatic Cell Genet6:641-52 1980 |
| PubMed ID: 6933702 |
| |
| DeLuca C, Brown JA, Shows TB, Lysosomal arylsulfatase deficiencies in humans: chromosome assignments for arylsulfatase A and B. Proc Natl Acad Sci U S A76:1957-61 1979 |
| PubMed ID: 36611 |
| dbSNP |
dbSNP ID: 21703 |
| NCBI GTR |
250100 METACHROMATIC LEUKODYSTROPHY; MLD |
| OMIM |
250100 METACHROMATIC LEUKODYSTROPHY; MLD |
| Omim Description |
ARYLSULFATASE A DEFICIENCY; ARSA DEFICIENCY |
| |
CEREBRAL SCLEROSIS, DIFFUSE, METACHROMATIC FORM |
| |
CEREBROSIDE SULFATASE DEFICIENCYARYLSULFATASE A, INCLUDED; ARSA, INCLUDED |
| |
METACHROMATIC LEUKODYSTROPHY, ADULT, INCLUDED |
| |
METACHROMATIC LEUKODYSTROPHY, JUVENILE, INCLUDED |
| |
METACHROMATIC LEUKODYSTROPHY, LATE-INFANTILE |
| |
METACHROMATIC LEUKOENCEPHALOPATHY |
| |
MLD |
| |
PSEUDOARYLSULFATASE A DEFICIENCY, INCLUDED |
| |
SULFATIDE LIPIDOSIS |
|
|