GM22757
Fibroblast from Skin, Thigh
Description:
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
|
Biopsy Source
|
Thigh
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
Fibroblast from Skin, Thigh
|
|
Race
|
White
|
|
Family Member
|
4
|
|
Family History
|
N
|
|
Relation to Proband
|
brother
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
4.17 |
| Passage Frozen |
2 |
| |
| alkaline phosphatase |
According to the submitter biochemical test results for this subject showed normal enzyme activity. EC Number: 3.1.3.1 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
| |
| Remarks |
Clinically normal; serum creatine phosphokinase is 192 U/L; serum bone-specific alkaline phosphatase is 60 U/L; affected brother is GM22394; affected sister is GM22396; see GM22756 Lymphoid |
| Jang H, Jang ER, Wilson PG, Anderson D, Galperin E, VCP/p97 controls signals of the ERK1/2 pathway transmitted via the Shoc2 scaffolding complex: novel insights into IBMPFD pathology Molecular biology of the cell30:1655-1663 2019 |
| PubMed ID: 31091164 |
| |
| Watts GD, Thomasova D, Ramdeen SK, Fulchiero EC, Mehta SG, Drachman DA, Weihl CC, Jamrozik Z, Kwiecinski H, Kaminska A, and Kimonis VE.
, Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia
Clin Genet72:420-426 2007 |
| PubMed ID: 17935506 |
| Cumulative PDL at Freeze |
4.2 |
| Passage Frozen |
2 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
10% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
|
|