AG04475
Fibroblast from Skin, Arm
Description:
DYSTROPHIA MYOTONICA 1; DM1
Repository
|
NIA Aging Cell Culture Repository
|
Subcollection |
Heritable Diseases |
Class |
Disorders with Trinucleotide Expansions |
Biopsy Source
|
Arm
|
Cell Type
|
Fibroblast
|
Tissue Type
|
Skin
|
Transformant
|
Untransformed
|
Sample Source
|
Fibroblast from Skin, Arm
|
Race
|
White
|
Relation to Proband
|
proband
|
Confirmation
|
Clinical summary/Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
PDL at Freeze |
3 |
Passage Frozen |
2 |
|
Remarks |
The donor manifested myotonia, weakness, testicular atrophy and gynecomastia. There was no cataracts or frontal balding. The biopsy was taken antemortem on 11/18/80 from skin of the upper left arm. The culture was initiated using explants of minced tissue. The cell morphology is fibroblastlike. Molecular analysis showed abnormal allele with about 4,000 copies of GCT repeat. |
Cumulative PDL at Freeze |
3 |
Passage Frozen |
2 |
Split Ratio |
1:4 |
Temperature |
37 C |
Percent CO2 |
5% |
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 |
- |
|
|