Description:
APPARENTLY HEALTHY INDIVIDUAL
Age:
26No Data
(At Sampling)
|
Repository
|
NIGMS Human Genetic Cell Repository
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| 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 |
4.01 |
| Passage Frozen |
2 |
| |
| 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. |
| Johnstone T, Wang J, Ross D, Balanda N, Huang Y, Godfrey R, Groden C, Barton BR, Gahl W, Toro C, Malicdan MCV, Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndrome Molecular genetics and metabolism: 2020 |
| PubMed ID: 33097395 |
| |
| Nicoli ER, Weston MR, Hackbarth M, Becerril A, Larson A, Zein WM, Baker PR, Burke JD, Dorward H, Davids M, Huang Y, Adams DR, Zerfas PM, Chen D, Markello TC, Toro C, Wood T, Elliott G, Vu M, Undiagnosed Diseases Network M, Zheng W, Garrett LJ, Tifft CJ, Gahl WA, Day-Salvatore DL, Mindell JA, Malicdan MCV, Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification American journal of human genetics104:1127-1138 2019 |
| PubMed ID: 31155284 |
| |
| Yang SJ, Lipnick SL, Makhortova NR, Venugopalan S, Fan M, Armstrong Z, Schlaeger TM, Deng L, Chung WK, O'Callaghan L, Geraschenko A, Whye D, Berndl M, Hazard J, Williams B, Narayanaswamy A, Ando DM, Nelson P, Rubin LL, Applying Deep Neural Network Analysis to High-Content Image-Based Assays SLAS discovery : advancing life sciences R & D24:829-841 2019 |
| PubMed ID: 31284814 |
| Cumulative PDL at Freeze |
4.01 |
| Passage Frozen |
2 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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 |
| Supplement |
- |
|
|