Description:
APPARENTLY HEALTHY INDIVIDUAL
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Apparently Healthy Collection |
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Cell Type
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Fibroblast
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|
Transformant
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Untransformed
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|
Race
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White
|
|
Family Member
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1
|
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Relation to Proband
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proband
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|
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
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Human
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|
Remarks
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|
| PDL at Freeze |
4.71 |
| Passage Frozen |
7 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
| |
| Cytogenetics |
Chromosome 8: ANEUPLOID Trisomic Segment 8pter>8qter |
| Remarks |
Formerly GM00967B; same subject as GM00967D; biopsy taken 6 years later; see GM13336 Lymphoid; 46,XY/47,XY,+8; 64%/10%; 26% of cells are tetraploid |
| Cencelli G, Pacini L, De Luca A, Messia I, Gentile A, Kang Y, Nobile V, Tabolacci E, Jin P, Farace MG, Bagni C, Age-Dependent Dysregulation of APP in Neuronal and Skin Cells from Fragile X Individuals Cells12: 2023 |
| PubMed ID: 36899894 |
| |
| Kuo SH, Tasset I, Cheng MM, Diaz A, Pan MK, Lieberman OJ, Hutten SJ, Alcalay RN, Kim S, Ximénez-Embún P, Fan L, Kim D, Ko HS, Yacoubian T, Kanter E, Liu L, Tang G, Muñoz J, Sardi SP, Li A, Gan L, Cuervo AM, Sulzer D, Mutant glucocerebrosidase impairs a-synuclein degradation by blockade of chaperone-mediated autophagy Science advances8:eabm6393 2022 |
| PubMed ID: 35138901 |
| |
| Fleischer JG, Schulte R, Tsai HH, Tyagi S, Ibarra A, Shokhirev MN, Huang L, Hetzer MW, Navlakha S, Predicting age from the transcriptome of human dermal fibroblasts Genome Biology19:eabm6393 2018 |
| PubMed ID: 30567591 |
| Passage Frozen |
7 |
| 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 |
- |
|