Description:
MUCOPOLYSACCHARIDOSIS TYPE VI
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of Carbohydrate Metabolism |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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Family Member
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5
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Relation to Proband
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sister
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XX
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|
Species
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Homo sapiens
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Common Name
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Human
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Remarks
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|
| Passage Frozen |
7 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Remarks |
Normal level of Arylsulfatase B; 46,XX.
Sister of individual affected with Mucopolysaccaridosis Type VI |
| Cotticelli MG, Xia S, Truitt R, Doliba NM, Rozo AV, Tobias JW, Lee T, Chen J, Napierala JS, Napierala M, Yang W, Wilson RB, Acute frataxin knockdown in induced pluripotent stem cell-derived cardiomyocytes activates a type I interferon response Disease models & mechanisms16: 2022 |
| PubMed ID: 36107856 |
| |
| Bodnar B, Zhang Y, Liu J, Lin Y, Wang P, Wei Z, Saribas S, Zhu Y, Li F, Wang X, Yang W, Li Q, Ho WZ, Hu W, Novel Scalable and Simplified System to Generate Microglia-Containing Cerebral Organoids From Human Induced Pluripotent Stem Cells Frontiers in cellular neuroscience15:682272 2021 |
| PubMed ID: 34290591 |
| |
| Sharma P, Reichert M, Lu Y, Markello TC, Adams DR, Steinbach PJ, Fuqua BK, Parisi X, Kaler SG, Vulpe CD, Anderson GJ, Gahl WA, Malicdan MCV, Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype PLoS genetics15:e1008143 2018 |
| PubMed ID: 31125343 |
| |
| Shanmughapriya S, Tomar D, Dong Z, Slovik KJ, Nemani N, Natarajaseenivasan K, Carvalho E, Lu C, Corrigan K, Garikipati VNS, Ibetti J, Rajan S, Barrero C, Chuprun K, Kishore R, Merali S, Tian Y, Yang W, Madesh M, FOXD1-dependent MICU1 expression regulates mitochondrial activity and cell differentiation Nature communications9:3449 2017 |
| PubMed ID: 30158529 |
| |
| Beratis NG, Hirschhorn K, Friedman S, Greene AE, Coriell LL, Maroteaux-Lamy syndrome: repository identification nos. GM- 519,520,935,943, and 1022. Cytogenet Cell Genet17:236-8 1976 |
| PubMed ID: 826372 |
| |
| Beratis NG, Turner BM, Weiss R, Hirschhorn K, Arylsulfatase B deficiency in Maroteaux-Lamy syndrome: Cellular studies and carrier identification. Pediatr Res9:475-80 1975 |
| PubMed ID: 806052 |
| Passage Frozen |
7 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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 |
- |
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