Name細胞名稱：NTCC? GM23800 CENTRONUCLEAR MYOPATHY | RYANODINE RECEPTOR 1; RYR1 B-Lymphocyte Cell Line
中心核肌病 |蘭尼堿受體1； RYR1細胞株
Description描述：Clinically affected; symptom onset before age 2; maximum motor function achieved: climbing stairs with handrail; Compound heterozygous mutation in RYR1 gene: c.6721C>T resulting in p.Arg2241* and c.325C>T resulting in p.Arg109Trp; Affected brother is GM23796; unaffected family members: mother GM23798, brother GM23799, and brother GM23797.
Category分類：B-Lymphocyte
ID編號:NTCC?-GM23800
Size/Quantity數量: 1 Flask/2 Vials
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT/Dry Ice
Storage儲存方式: RT/Liquid Nitrogen
Race: White
Age年齡:30 YR
Gender性別:Male
Cell Type細胞類型: CENTRONUCLEAR MYOPATHY | RYANODINE RECEPTOR 1; RYR1
Affected State:Yes
Product:LCL
Gene:RYR1
Mutations突變:ARG109TRP ARG2241*
Ethnicity:SCANDINAVIAN
Family:3072
Relationship:brother
Karyotype:
Tissue Type組織來源:Blood
Complete Growth Medium完全培養基: BioVector? Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent Complete Medium
Subculturing傳代方法:
Cryopreservation凍存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培養條件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鑒定數據:
References參考文獻:

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