GM25516 CENTRONUCLEAR MYOPATHY | RYANODINE RECEPTOR 1; RYR1 Skin, Skin Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM25516 CENTRONUCLEAR MYOPATHY | RYANODINE RECEPTOR 1; RYR1 Skin, Skin Cell Line
中心核肌病 |兰尼碱受体1； RYR1细胞株
Description描述：Clinically affected; symptom onset before age 2; complications with delivery resulted in emergency C-section; at birth: hypotonic, external opthalmoplegia, bilateral cephalohematomas, pre-retinal hemorrhage in the left eye, feeding difficulties; at 6 months, noted absent tendon reflexes; motor functions achieved and maintained: holding head up, sitting, and walking without assistance; maximum motor function achieved: climbing stairs with handrail; on the RYR1 gene, donor is compound heterozygous for c.6721C>T(p.Arg2241*, pathogenic, paternally inherited), c.325C>T(p.Arg109Trp, likely pathogenic, maternally inherited), c.2122G>A(p.Asp708Asn, VUS, paternally inherited), and c.1453A>G(p.Met485Val, VUS, maternally inherited); family history: affected brother is GM23796 (lymph); unaffected family members: mother GM23798 (lymph), brother GM23799(lymph), and brother GM23797 (lymph); same subject lymphoblast is GM23800.
Category分类：Fibroblast
ID编号:NTCC®-GM25516
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:34 YR
Gender性别:Male
Cell Type细胞类型: CENTRONUCLEAR MYOPATHY | RYANODINE RECEPTOR 1; RYR1
Affected State:Yes
Product:Fibroblast
Gene:RYR1
Mutations突变:ARG109TRP ARG2241*
Ethnicity:Norwegian
Family:3072
Relationship:brother
Karyotype:
Tissue Type组织来源:Skin
Complete Growth Medium完全培养基: BioVector® Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids 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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