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GM26263 LCL from B-Lymphocyte

Description:

NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2
NEBULIN; NEB

Affected:

No

Sex:

Male

Age:

28 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
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 Other
Ethnicity Not Hispanic/Latino
Ethnicity Dominican, Costa Rican, Jamaican, Puerto Rican
Country of Origin USA
Family Member 3
Family History Y
Relation to Proband father
Confirmation Molecular characterization before cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Unaffected carrier; pathogenic variant in NEB: c.17262G>A (p.W5754X) also found in affected child - GM26260 (lymphoblast) and GM26261 (fibroblast).

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by LINE assay
 
Gene NEB
Chromosomal Location 2q23.3
Allelic Variant 1 p.W5754X;
Identified Mutation C.17262 G>A

Phenotypic Data

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Remarks Unaffected carrier; pathogenic variant in NEB: c.17262G>A (p.W5754X) also found in affected child - GM26260 (lymphoblast) and GM26261 (fibroblast).

Publications

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Pehlivan D, Bengtsson JD, Bajikar SS, Grochowski CM, Lun MY, Gandhi M, Jolly A, Trostle AJ, Harris HK, Suter B, Aras S, Ramocki MB, Du H, Mehaffey MG, Park K, Wilkey E, Karakas C, Eisfeldt JJ, Pettersson M, Liu L, Shinawi MS, Kimonis VE, Wiszniewski W, Mckenzie K, Roser T, Vianna-Morgante AM, Cornier AS, Abdelmoity A, Hwang JP, Jhangiani SN, Muzny DM, Mitani T, Muramatsu K, Nabatame S, Glaze DG, Fatih JM, Gibbs RA, Liu Z, Lindstrand A, Sedlazeck FJ, Lupski JR, Zoghbi HY, Carvalho CMB, Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression Genome medicine16:146 2024
PubMed ID: 39696717

External Links

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Gene Cards NEB
Gene Ontology GO:0003779 actin binding
GO:0007525 somatic muscle development
GO:0008307 structural constituent of muscle
GO:0015629 actin cytoskeleton
GO:0030017 sarcomere
GO:0030832 regulation of actin filament length
NCBI Gene Gene ID:4703
NCBI GTR 161650 NEBULIN; NEB
256030 NEMALINE MYOPATHY 2; NEM2
OMIM 161650 NEBULIN; NEB
256030 NEMALINE MYOPATHY 2; NEM2
Omim Description NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2

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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