Description:
MAJOR AFFECTIVE DISORDER - 125480 OR 309200
Repository
|
NIGMS Human Genetic Cell Repository
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Subcollection |
Heritable Diseases |
Class |
Disorders of the Nervous System |
Cell Type
|
Fibroblast
|
Transformant
|
Untransformed
|
Race
|
White
|
Family Member
|
4
|
Relation to Proband
|
father
|
Confirmation
|
Clinical summary/Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
PDL at Freeze |
4.81 |
Passage Frozen |
5 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
|
Remarks |
Clinically unaffected; 2 children have type I bipolar illness; twin sister has unipolar illness; see GM05946A Lymphoid |
Paulsen B, Velasco S, Kedaigle AJ, Pigoni M, Quadrato G, Deo AJ, Adiconis X, Uzquiano A, Sartore R, Yang SM, Simmons SK, Symvoulidis P, Kim K, Tsafou K, Podury A, Abbate C, Tucewicz A, Smith SN, Albanese A, Barrett L, Sanjana NE, Shi X, Chung K, Lage K, Boyden ES, Regev A, Levin JZ, Arlotta P, Autism genes converge on asynchronous development of shared neuron classes Nature602:268-273 2020 |
PubMed ID: 35110736 |
|
Shin JW, Hong EP, Park SS, Choi DE, Seong IS, Whittaker MN, Kleinstiver BP, Chen RZ, Lee JM, Allele-specific silencing of the gain-of-function mutation in Huntington's disease using CRISPR/Cas9 JCI insight7:268-273 2020 |
PubMed ID: 36040815 |
|
Martin P, Wagh V, Reis SA, Erdin S, Beauchamp RL, Shaikh G, Talkowski M, Thiele E, Sheridan SD, Haggarty SJ, Ramesh V, TSC patient-derived isogenic neural progenitor cells reveal altered early neurodevelopmental phenotypes and rapamycin-induced MNK-eIF4E signaling Molecular autism11:2 2019 |
PubMed ID: 31921404 |
|
Ramaiah M, Tan K, Plank TM, Song HW, Dumdie JN, Jones S, Shum EY, Sheridan SD, Peterson KJ, Gromoll J, Haggarty SJ, Cook-Andersen H, Wilkinson MF, A microRNA cluster in the Fragile-X region expressed during spermatogenesis targets FMR1 EMBO Reports11:2 2018 |
PubMed ID: 30573526 |
|
Gershon ES, Targum SD, Matthysse S, Bunney WE Jr, Color blindness not closely linked to bipolar illness. Report of a new pedigree series. Arch Gen Psychiatry36:1423-30 1979 |
PubMed ID: 316315 |
Passage Frozen |
5 |
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 |
- |
|
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