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GM29212 iPSC from Blood

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
Protocols Protocol PDF
Biopsy Source Blood
Cell Type Stem cell
Cell Subtype Induced pluripotent stem cell
Transformant Reprogrammed (Sendai)
Sample Source iPSC from Blood
Race Asian
Ethnicity Korean
Country of Origin USA
Family Member 1
Family History N
Relation to Proband proband
Confirmation Clinical summary/Case history
ISCN 46,XY[18]
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. Researchers purchasing hiPSCs from the NIGMS Repository are responsible for any limited use label licenses (LULLs) applicable to the cell line purchased. The applicable LULL to this line is Sendai-CytoTune

Characterizations

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Passage Frozen 14
 
Induced Pluripotent Stem Cell The frozen cell line submitted to the Repository was recovered and expanded. The expanded line was evaluated for viability surface antigen expression and alkaline phosphatase activity. Pluripotency was assessed via embryoid body (EB) formation. Steady-state mRNA expression patterns of undifferentiated iPSC and EBs were determined via real-time PCR. Characterization data are included in the Certificate of Analysis.
 

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. Researchers purchasing hiPSCs from the NIGMS Repository are responsible for any limited use label licenses (LULLs) applicable to the cell line purchased. The applicable LULL to this line is Sendai-CytoTune

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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Passage Frozen 14
Split Ratio 1:10
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium mTeSR1
Serum none
Substrate Matrigel
Supplement -
Pricing
International/Commercial/For-profit:
$1,789.00USD
U.S. Academic/Non-profit/Government:
$1,110.00USD
Add to Cart
How to Order
  • Ordering Instructions
  • MTA / Assurance Form
  • Statement of Research Intent Form
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  • GM27337 - B-Lymphocyte
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  • GM28543 - B-Lymphocyte
Same Family
  • 3334
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