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GM00197 Fibroblast from Skin, Arm

Description:

METACHROMATIC LEUKODYSTROPHY

Affected:

Yes

Sex:

Male

Age:

4 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Images
  • Culture Protocols

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Lysosomal Storage Diseases
Class Disorders of Lipid Metabolism
Biopsy Source Arm
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Sample Source Fibroblast from Skin, Arm
Race White
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
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;

Characterizations

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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
 

Phenotypic Data

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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;

Publications

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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

External Links

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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

Images

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View pedigree 

Culture Protocols

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Passage Frozen 6
Split Ratio 1:5
Temperature 37 C
Percent CO2 5%
Medium Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not inactivated
Substrate None specified
Subcultivation Method trypsin-EDTA
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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How to Order
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