Description:
APPARENTLY HEALTHY INDIVIDUAL
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Apparently Healthy Collection |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
4.84 |
| Passage Frozen |
6 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Remarks |
Clinically normal individual with a normal brain MRI scan, neurological exam, and neuropsychological testing. This individual participated in a research study as a normal control. Medical records had been reviewed to confirm that the individual had no other medical problems. This individual was also evaluated by the submitter. |
| Eltahir MK, Nakamori M, Hattori S, Kimura T, Mochizuki H, Nagano S, Pharmacotherapy alleviates pathological changes in human direct reprogrammed neuronal cell model of myotonic dystrophy type 1 PloS one17:e0269683 2022 |
| PubMed ID: 35776705 |
| |
| Sarkar H, Mitsios A, Smart M, Skinner J, Welch A, Kalatzis V, Coffey P, Dubis AM, Webster A, Moosajee M, Nonsense-mediated mRNA decay efficiency varies in choroideremia providing a target to boost small molecule therapeutics Human molecular genetics17:e0269683 2019 |
| PubMed ID: 30689859 |
| Passage Frozen |
6 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
|
|