GM23650 CENTRAL CORE DISEASE OF MUSCLE | RYANODINE RECEPTOR 1; RYR1 Skin, Unspecified Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM23650 CENTRAL CORE DISEASE OF MUSCLE | RYANODINE RECEPTOR 1; RYR1 Skin, Unspecified Cell Line
中央核心肌肉疾病 |兰尼碱受体1； RYR1细胞株
Description描述：Clinically affected; onset of symptoms before age 2 years; holds head up without assistance; turned in bed without assistance; sat without assistance at age 11 months; maximal motor function: sitting unsupported for less than 1 hour; normal creatine kinase; muscle biopsy and muscle imaging (MRI) performed: rare core like structures identified; donor subject is a compound heterozygote: the paternal allele has a 13 bp deletion at nucleotide 7463 in exon 47 of the RYR1 gene (c.7463_7475del13) predicted to result in a frameshift and premature protein termination (p.Pro2488HisfsX39); the maternal allele has a C>T transition at nucleotide 1201 in exon 12 (c.1201C>T) resulting in the substitution of cysteine for arginine at codon 401 [Arg401Cys (R401C)]; Treatments: breathing treatment medications.
Category分类：Fibroblast
ID编号:NTCC®-GM23650
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:1 MO
Gender性别:Female
Cell Type细胞类型: CENTRAL CORE DISEASE OF MUSCLE | RYANODINE RECEPTOR 1; RYR1
Affected State:Yes
Product:Fibroblast
Gene:RYR1
Mutations突变:7463_7475del13 ARG401CYS
Ethnicity:GERMAN/NORWEGIAN/RUSSIAN
Family:
Relationship:proband
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
NTCC典型培养物保藏中心
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