GM02038
Fibroblast from Skin, Unspecified
Description:
SCHIZOPHRENIA; SCZD
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of the Nervous System |
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Biopsy Source
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Unspecified
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Skin, Unspecified
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Race
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White
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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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Clinical summary/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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| Passage Frozen |
2 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| Remarks |
Skin biopsy; onset of symptoms at age 6; suicide; same patient as GM02039 |
| Readhead B, Hartley BJ, Eastwood BJ, Collier DA, Evans D, Farias R, He C, Hoffman G, Sklar P, Dudley JT, Schadt EE, Savic R, Brennand KJ, Expression-based drug screening of neural progenitor cells from individuals with schizophrenia Nature communications9:4412 2018 |
| PubMed ID: 30356048 |
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| Sarkar A, Mei A, Paquola ACM, Stern S, Bardy C, Klug JR, Kim S, Neshat N, Kim HJ, Ku M, Shokhirev MN, Adamowicz DH, Marchetto MC, Jappelli R, Erwin JA, Padmanabhan K, Shtrahman M, Jin X, Gage FH, Efficient Generation of CA3 Neurons from Human Pluripotent Stem Cells Enables Modeling of Hippocampal Connectivity In Vitro Cell stem cell22:684-697.e9 2017 |
| PubMed ID: 29727680 |
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| Merla G, Howald C, Henrichsen CN, Lyle R, Wyss C, Zabot MT, Antonarakis SE, Reymond A, Submicroscopic deletion in patients with williams-beuren syndrome influences expression levels of the nonhemizygous flanking genes American journal of human genetics79:332-41 2006 |
| PubMed ID: 16826523 |
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| Etcheberrigaray E, Gibson GE, Alkon DL, Molecular mechanisms of memory and the pathophysiology of Alzheimer's disease. Ann N Y Acad Sci747:245-55 1994 |
| PubMed ID: 7847674 |
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| Ito E, Oka K, Etcheberrigaray R, Nelson TJ, McPhie DL, Tofel-Grehl B, Gibson GE, Alkon DL, Internal Ca2+ mobilization is altered in fibroblasts from patients with Alzheimer disease. Proc Natl Acad Sci U S A91:534-8 1994 |
| PubMed ID: 8290560 |
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| Etcheberrigaray R, Ito E, Oka K, Tofel-Grehl B, Gibson GE, Alkon DL, Potassium channel dysfunction in fibroblasts identifies patients with Alzheimer disease. Proc Natl Acad Sci U S A90:8209-13 1993 |
| PubMed ID: 8367484 |
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| Etcheberrigaray R, Ito E, Oka K, Tofel-Grehl B, Gibson GE, Alkon DL, Potassium channel dysfunction in fibroblasts identifies patients with Alzheimer disease. Proc Natl Acad Sci U S A90:8209-13 1993 |
| PubMed ID: 29691375 |
| Passage Frozen |
2 |
| 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 |
- |
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