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GM26124 LCL from B-Lymphocyte

Description:

MYOPATHY, CONGENITAL; TYPE UNKNOWN
RYANODINE RECEPTOR 1; RYR1

Affected:

Yes

Sex:

Female

Age:

12 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 White
Ethnicity Not Hispanic/Latino
Country of Origin USA
Family Member 1
Family History Y
Relation to Proband proband
Species Homo sapiens
Common Name Human
Remarks Clinically affected; diagnosed with myopathy, congenital unknown type at 10 years old; stayed in NICU for 11 days for feeding issues; hypotonia; subclinical hypothyroidism; developmental delay; rolled at 8 months, sat at 9 months, walked independently at 14 months, first word at 15 months; failure to thrive; poor energy levels; very low muscle mass; cramping in hands and feet; pain in front of legs at night; episodes of dizziness and visual disturbances where images appear maginified brought on by activity and heat; non-diagnostic muscle biopsy showed no evidence of mitochondrial dysfunction; whole exome sequencing found 2 VOUS, one heterozygous variant in FLNC gene (c.2602A>G) which resulted in p.SER868GLY and one heterozygous de-novo variant in RYR1 (c.6584C>T) resulting in p.PRO2195LEU; variant finding in RYR1 could be diagnostic, but pathogenicity is unknown as of date of sampling; secondary pathogenic heterozygous variant in TYMP gene (c.929-6_929-3delCCGC) resulting in disruption of splicing recognition site, individual may be a carrier for mitochondrial DNA depletion syndrome 1 (MNGIE type) due to WES results and phenotype; physical therapy; Pediasure and Vitale; closed nasal reduction; tonsillectomy and adenoidectomy; mother (GM26125) and father (GM26126) also in repository.

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by LINE assay
 
Gene FLNC
Chromosomal Location 7q32.1
Allelic Variant 1 102565.1;
Identified Mutation c.2602A>G
 
Gene RYR1
Chromosomal Location 19q13.2
Allelic Variant 1 180901.1; KING DENBOROUGH SYNDROME AND MINICORE MYOPATHY WITH EXTERNAL OPTHALMOPLEGIA
Identified Mutation c.6584C>T
 
Gene TYMP
Chromosomal Location 22q13.33
Allelic Variant 1 131222.1; MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE)
Identified Mutation c.929-6_929-3delCCGC

Phenotypic Data

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Remarks Clinically affected; diagnosed with myopathy, congenital unknown type at 10 years old; stayed in NICU for 11 days for feeding issues; hypotonia; subclinical hypothyroidism; developmental delay; rolled at 8 months, sat at 9 months, walked independently at 14 months, first word at 15 months; failure to thrive; poor energy levels; very low muscle mass; cramping in hands and feet; pain in front of legs at night; episodes of dizziness and visual disturbances where images appear maginified brought on by activity and heat; non-diagnostic muscle biopsy showed no evidence of mitochondrial dysfunction; whole exome sequencing found 2 VOUS, one heterozygous variant in FLNC gene (c.2602A>G) which resulted in p.SER868GLY and one heterozygous de-novo variant in RYR1 (c.6584C>T) resulting in p.PRO2195LEU; variant finding in RYR1 could be diagnostic, but pathogenicity is unknown as of date of sampling; secondary pathogenic heterozygous variant in TYMP gene (c.929-6_929-3delCCGC) resulting in disruption of splicing recognition site, individual may be a carrier for mitochondrial DNA depletion syndrome 1 (MNGIE type) due to WES results and phenotype; physical therapy; Pediasure and Vitale; closed nasal reduction; tonsillectomy and adenoidectomy; mother (GM26125) and father (GM26126) also in repository.

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 1:3
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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