GM26124 MYOPATHY, CONGENITAL; TYPE UNKNOWN | RYANODINE RECEPTOR 1; RYR1 B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM26124 MYOPATHY, CONGENITAL; TYPE UNKNOWN | RYANODINE RECEPTOR 1; RYR1 B-Lymphocyte Cell Line
先天性肌病；类型未知 |兰尼碱受体1； RYR1细胞株
Description描述：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.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM26124
Size/Quantity数量: 1 Flask/2 Vials
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT/Dry Ice
Storage储存方式: RT/Liquid Nitrogen
Race: White
Age年龄:12 YR
Gender性别:Female
Cell Type细胞类型: MYOPATHY, CONGENITAL; TYPE UNKNOWN | RYANODINE RECEPTOR 1; RYR1
Affected State:Yes
Product:LCL
Gene:FLNC RYR1 TYMP
Mutations突变:c.2602A>G c.6584C>T c.929-6_929-3delCCGC
Ethnicity:
Family:3332
Relationship:proband
Karyotype:
Tissue Type组织来源:Blood
Complete Growth Medium完全培养基: BioVector® Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent Complete Medium
Subculturing传代方法:
Cryopreservation冻存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培养条件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鉴定数据:
References参考文献:

Supplier供应商:BioVector质粒载体菌株细胞蛋白抗体基因保藏中心
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