Description:
FABRY DISEASE
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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 Lipid 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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4
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Relation to Proband
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maternal cousin
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Confirmation
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Clinical summary/Case history
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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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| PDL at Freeze |
6.78 |
| Passage Frozen |
6 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Remarks |
Alpha-gal A absent, alpha-gal B normal, Xg(a) antigen positive; 1st cousin to proband |
| Hallows WC, Skvorak K, Agard N, Kruse N, Zhang X, Zhu Y, Botham RC, Chng C, Shukla C, Lao J, Miller M, Sero A, Viduya J, Ismaili MHA, McCluskie K, Schiffmann R, Silverman AP, Shen JS, Huisman GW, Optimizing human a-galactosidase for treatment of Fabry disease Scientific reports13:4748 2022 |
| PubMed ID: 36959353 |
| |
| Osahor AN, Ng AWR, Narayanan K, Visualization of Bacteria-Mediated Gene Delivery Using High-Resolution Electron and Confocal Microscopy Methods in molecular biology (Clifton, NJ)2211:29-40 2020 |
| PubMed ID: 33336268 |
| |
| Welford RWD1, Mühlemann A1, Garzotti M1, Rickert V2, Groenen PMA1, Morand O1, Üçeyler N2, Probst MR1., Glucosylceramide synthase inhibition with lucerastat lowers globotriaosylceramide and lysosome staining in cultured fibroblasts from Fabry patients with different mutation types Human Molecular Genetics2211:29-40 2018 |
| PubMed ID: 29982630 |
| |
| Ziegler RJ, Yew NS, Li C, Cherry M, Berthelette P, Romanczuk H, Ioannou YA, Zeidner KM, Desnick RJ, Cheng SH, Correction of enzymatic and lysosomal storage defects in Fabry mice by adenovirus-mediated gene transfer. Hum Gene Ther10(10):1667-82 1999 |
| PubMed ID: 10428212 |
| |
| Coppola G, Yan Y, Hantzopoulos P, Segura E, Stroh JG, Calhoun DH, Characterization of glycosylated and catalytically active recombinant human alpha-galactosidase A using a baculovirus vector. Gene144:197-203 1994 |
| PubMed ID: 8039705 |
| |
| Mayes JS, Cray EL, Dell VA, Scheerer JB, Sifers RN, Endocytosis of lysosomal alpha-galactosidase A by cultured fibroblasts from patients with Fabry disease. Am J Hum Genet34:602-10 1982 |
| PubMed ID: 6285697 |
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| Ropers HH, Wienker TF, Grimm T, Schroetter K, Bender K, Evidence for preferential X-chromosome inactivation in a family with Fabry disease. Am J Hum Genet29:361-70 1977 |
| PubMed ID: 406783 |
| Passage Frozen |
6 |
| Split Ratio |
1:4 |
| 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 |
| Supplement |
- |
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