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GM00850 Fibroblast

Description:

NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3

Affected:

Yes

Sex:

Male

Age:

26 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
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically affected

Characterizations

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Passage Frozen 8
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis
 

Phenotypic Data

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Remarks Clinically affected

Publications

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Ajiro M, Awaya T, Kim YJ, Iida K, Denawa M, Tanaka N, Kurosawa R, Matsushima S, Shibata S, Sakamoto T, Studer R, Krainer AR, Hagiwara M, Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia Nature communications12:4507 2020
PubMed ID: 34301951
 
Morini E, Gao D, Montgomery CM, Salani M, Mazzasette C, Krussig TA, Swain B, Dietrich P, Narasimhan J, Gabbeta V, Dakka A, Hedrick J, Zhao X, Weetall M, Naryshkin NA, Wojtkiewicz GG, Ko CP, Talkowski ME, Dragatsis I, Slaugenhaupt SA, ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial Dysautonomia American journal of human genetics104:638-650 2018
PubMed ID: 30905397
 
Wrathall, Reduced neuronotrophic activity of fibroblasts from individuals with Dysautonomia. J Cell Biol97:243a (1983):638-650 1983
PubMed ID: 30905397
 
Scudiero DA, Meyer SA, Clatterbuck BE, Tarone RE, Robbins JH, Hypersensitivity to N-methyl-N'-nitro-N-nitrosoguanidine in fibroblasts from patients with Huntington disease, familial dysautonomia, and other primary neuronal degenerations. Proc Natl Acad Sci U S A78:6451-5 1981
PubMed ID: 6458814

External Links

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dbSNP dbSNP ID: 19971
NCBI GTR 223900 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3
OMIM 223900 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3
Omim Description DYSAUTONOMIA, FAMILIAL; DYS
  FD
  HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY III
  HSAN-III
  RILEY-DAY SYNDROME

Culture Protocols

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Passage Frozen 8
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
Subcultivation Method trypsin-EDTA
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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