Description:
APPARENTLY HEALTHY INDIVIDUAL
|
Repository
|
NIGMS Human Genetic Cell Repository
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| Subcollection |
Apparently Healthy Collection |
|
Cell Type
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Fibroblast
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|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Family Member
|
2
|
|
Relation to Proband
|
proband
|
|
Confirmation
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Karyotypic analysis and Case history
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|
Species
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Homo sapiens
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|
Common Name
|
Human
|
|
Remarks
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|
| PDL at Freeze |
4.97 |
| Passage Frozen |
6 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Cytogenetics |
Chromosome 4: TRANSLOCATION Breakpoint 4q21 t(4;7)4q21 |
|
Chromosome 7: TRANSLOCATION Breakpoint 7q36 t(4;7)7q36 |
| Remarks |
46,XY/46,XY,t(4;7)(4pter>4q21::7q36> 7qter;7pter>7q36::4q21>4qter); 70%/30%; normal RBC G6PD level, Xg(a) antigen absent; skin biopsy; brother of GM01864A |
| Ligezka AN, Radenkovic S, Saraswat M, Garapati K, Ranatunga W, Krzysciak W, Yanaihara H, Preston G, Brucker W, McGovern RM, Reid JM, Cassiman D, Muthusamy K, Johnsen C, Mercimek-Andrews S, Larson A, Lam C, Edmondson AC, Ghesquière B, Witters P, Raymond K, Oglesbee D, Pandey A, Perlstein EO, Kozicz T, Morava E, Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications Annals of neurology: 2021 |
| PubMed ID: 34652821 |
| Cumulative PDL at Freeze |
10.4 |
| Passage Frozen |
6 |
| Split Ratio |
1:3 |
| 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 |
| Substrate |
None specified |
| Supplement |
- |
|
|