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GM26130 LCL from B-Lymphocyte

Description:

CENTRONUCLEAR MYOPATHY - TYPE UNKNOWN
RYANODINE RECEPTOR 1; RYR1

Affected:

Yes

Sex:

Male

Age:

3 YR (At Sampling)

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Muscular Dystrophies
CMD Specific
PIGI Consented Sample
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race Asian
Ethnicity Korean
Country of Origin USA
Family Member 1
Family History N
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically affected; Symptoms onset at birth; Diagnosed within first year of life; Pregnancy unremarkable except for decreased fetal movement compared to mother's previous pregnancies; Symptoms include: respiratory insufficiency, motor delay, hypotonia, spinomuscular atrophy, transient tachypnea, anemia, oxygen dependent at night and while sick, perinatal hepatitis B exposure, diminished reflexes and absent gag reflex; Muscle biopsy showed skeletal muscle with features of centronuclear/myotubular myopathy (congenital) with increased central nuclei; congenital myotonic dystrophy; DNA sequencing panel revealed several variants of unknown significance, but the cause of the phenotype remains unknown: one dominantly inherited, heterozygous MYH7 mutation c.3337-3dup, three heterozygous mutations in the RYR1 gene c.1186_1187delinsTC, c.1001G>T (p.Gly334Val), and c.7487C>G (p.Pro2496Arg), as well as one heterozygous mutation in TTN gene c.9338G>A (p.Arg3113His); Treatments: tracheostomy, g-tube, ventilator, takes palivizumab 100 mg/ml injection every 30 days; See GM26131 for unaffected mother and GM26132 for unaffected father

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by LINE assay
 

Phenotypic Data

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Remarks Clinically affected; Symptoms onset at birth; Diagnosed within first year of life; Pregnancy unremarkable except for decreased fetal movement compared to mother's previous pregnancies; Symptoms include: respiratory insufficiency, motor delay, hypotonia, spinomuscular atrophy, transient tachypnea, anemia, oxygen dependent at night and while sick, perinatal hepatitis B exposure, diminished reflexes and absent gag reflex; Muscle biopsy showed skeletal muscle with features of centronuclear/myotubular myopathy (congenital) with increased central nuclei; congenital myotonic dystrophy; DNA sequencing panel revealed several variants of unknown significance, but the cause of the phenotype remains unknown: one dominantly inherited, heterozygous MYH7 mutation c.3337-3dup, three heterozygous mutations in the RYR1 gene c.1186_1187delinsTC, c.1001G>T (p.Gly334Val), and c.7487C>G (p.Pro2496Arg), as well as one heterozygous mutation in TTN gene c.9338G>A (p.Arg3113His); Treatments: tracheostomy, g-tube, ventilator, takes palivizumab 100 mg/ml injection every 30 days; See GM26131 for unaffected mother and GM26132 for unaffected father

External Links

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Gene Cards RYR1
Gene Ontology GO:0004872 receptor activity
GO:0005219 ryanodine-sensitive calcium-release channel activity
GO:0005509 calcium ion binding
GO:0005790 smooth endoplasmic reticulum
GO:0005887 integral to plasma membrane
GO:0006812 cation transport
GO:0006816 calcium ion transport
GO:0006874 calcium ion homeostasis
GO:0006936 muscle contraction
GO:0015278 calcium-release channel activity
NCBI Gene Gene ID:6261
NCBI GTR 180901 RYANODINE RECEPTOR 1; RYR1
OMIM 180901 RYANODINE RECEPTOR 1; RYR1

Culture Protocols

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Split Ratio 1:6
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not Inactivated
Substrate None specified
Subcultivation Method dilution - add fresh medium
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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How to Order
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