GM04643
Fibroblast from Skin, Unspecified
Description:
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3
INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE-COMPLEX ASSOCIATED PROTEIN; IKBKAP
PARKINSON DISEASE
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases |
Biopsy Source
|
Unspecified
|
Cell Type
|
Fibroblast
|
Tissue Type
|
Skin
|
Transformant
|
Untransformed
|
Sample Source
|
Fibroblast from Skin, Unspecified
|
Race
|
White
|
Family Member
|
4
|
Relation to Proband
|
paternal aunt
|
Confirmation
|
Clinical summary/Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
Remarks |
Clinically unaffected with familial dysautonomia; clinically affected with Parkinson's disease, which was diagnosed at age 58; tremors and rigidity involving extremities; decreased vibratory sense in lower extremities; slight diminution of pin sensation; postural abnormalities; shuffling gait; donor subject tested negative for the 2507+6T>C mutation in the IKBKAP gene (IVS20+6T>C); paternal aunt of GM04589; same donor as GM04642 lymphocyte. |
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 |
20% fetal bovine serum Not inactivated |
Substrate |
None specified |
Subcultivation Method |
trypsin-EDTA |
Supplement |
- |
|
|