GM22238
Fibroblast from Skin, Thigh
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 |
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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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Fibroblast from Skin, Thigh
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Race
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White
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Family Member
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2
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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 |
4.55 |
| Passage Frozen |
3 |
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| 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 76 U/L; serum bone-specific alkaline phosphatase is 57 U/L; affected cousin is GM21752; see GM22237 Lymphoid |
| 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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| 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 |
| Cumulative PDL at Freeze |
4.55 |
| Passage Frozen |
3 |
| 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 |
| Supplement |
- |
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