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GM08330 Fibroblast

Description:

MAJOR AFFECTIVE DISORDER - 125480 OR 309200

Affected:

No

Sex:

Male

Age:

63 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Culture Protocols

Overview

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Repository NIGMS Human Genetic Cell Repository
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 Clinically unaffected; 2 children have type I bipolar illness; twin sister has unipolar illness; see GM05946A Lymphoid

Characterizations

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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
 

Phenotypic Data

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Remarks Clinically unaffected; 2 children have type I bipolar illness; twin sister has unipolar illness; see GM05946A Lymphoid

Publications

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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

External Links

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dbSNP dbSNP ID: 15286
Gene Cards MAFD1
MAFD2
NCBI Gene Gene ID:4095
Gene ID:4096
NCBI GTR 125480 MAJOR AFFECTIVE DISORDER 1; MAFD1
309200 MAJOR AFFECTIVE DISORDER 2; MAFD2
OMIM 125480 MAJOR AFFECTIVE DISORDER 1; MAFD1
309200 MAJOR AFFECTIVE DISORDER 2; MAFD2
Omim Description AFFECTIVE DISORDER
  BIPOLAR AFFECTIVE DISORDER; BPAD
  DEPRESSIVE DISORDER
  MAJOR AFFECTIVE DISORDER 1; MAFD1
  MANIC-DEPRESSIVE PSYCHOSIS, AUTOSOMAL
  MANIC-DEPRESSIVE PSYCHOSIS; MD1
  BIPOLAR AFFECTIVE DISORDER; BPAD
  MAJOR AFFECTIVE DISORDER 2; MAFD2
  MANIC-DEPRESSIVE ILLNESS; MDI
  MANIC-DEPRESSIVE PSYCHOSIS, X-LINKED
  MDX

Culture Protocols

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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 -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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