Description:
HUNTINGTON DISEASE; HD
APPARENTLY HEALTHY INDIVIDUAL
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of the Nervous System |
| Class |
Disorders with Trinucleotide Expansions |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Family Member
|
2
|
|
Relation to Proband
|
spouse
|
|
Confirmation
|
Clinical summary/Case history
|
|
ISCN
|
46,XX,t(6;19)(6pter>6q13::19p13.3>19pter;19qter>19p13.3::6q13>6qter)[8]/46,XX,t(7;22)(7qter>7p15::22q13>22qter;22pter>22q13::7p15>7pter),del(qter>12:)(p13)[4]/46,xx[38]
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
6 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Cytogenetics |
Chromosome 6: TRANSLOCATION Breakpoint 6q13 t(6;19)6q13 |
| Remarks |
Clinically normal; see GM04189 Lymphoid; proband is GM04219B Lymphoid; 46,XX/46, XX,t(6;19)(6pter>6q13::19p13.3>19pter; 19qter>19p13.3::6q13>6qter); 78%/22% |
| Gusella JF, Wexler NS, Conneally PM, Naylor SL, Anderson MA, Tanzi RE, Watkins PC, Ottina K, Wallace MR, Sakaguchi AY, et al, A polymorphic DNA marker genetically linked to Huntington's disease. Nature306:234-8 1983 |
| PubMed ID: 6316146 |
| Passage Frozen |
6 |
| Split Ratio |
1:3 |
| 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 |
- |
|
|