NA22246
DNA from Fibroblast
Description:
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Thigh
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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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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Family History
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N
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Relation to Proband
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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 |
5.05 |
| Passage Frozen |
2 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
| |
| alkaline phosphatase |
According to the submitter biochemical test results for this subject showed normal enzyme activity. EC Number: 3.1.3.1 |
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| Remarks |
Clinically normal; serum creatine phosphokinase is 162 U/L; serum bone-specific alkaline phosphatase is 52 U/L; affected cousin is GM21752; see GM22245 Lymphoid |
| Wang F, Li S, Wang TY, Lopez GA, Antoshechkin I, Chou TF, P97/VCP ATPase inhibitors can rescue p97 mutation-linked motor neuron degeneration Brain communications4:fcac176 2021 |
| PubMed ID: 35865348 |
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| Voisin A, Monville C, Plancheron A, Béré E, Gaillard A, Leveziel N, Cathepsin B pH-Dependent Activity Is Involved in Lysosomal Dysregulation in Atrophic Age-Related Macular Degeneration Oxidative medicine and cellular longevity2019:5637075 2019 |
| PubMed ID: 31885803 |
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| Al-Tahan S, Weiss L, Yu H, Tang S, Saporta M, Vihola A, Mozaffar T, Udd B, Kimonis V, New family with HSPB 8-associated autosomal dominant rimmed vacuolar myopathy Neurology Genetics5:e349 2018 |
| PubMed ID: 31403083 |
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| Kimonis VE, Mehta SG, Fulchiero EC, Thomasova D, Pasquali M, Boycott K, Neilan EG, Kartashov A, Forman MS, Tucker S, Kimonis K, Mumm S, Whyte MP, Smith CD, and Watts GDJ., Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia Am J Med Genet Part A146A:745-757 2008 |
| PubMed ID: 18260132 |
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