ND01037 PARKIN; PARK2 | PARKINSON DISEASE, JUVENILE, AUTOSOMAL RECESSIVE; PDJ B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® ND01037 PARKIN; PARK2 | PARKINSON DISEASE, JUVENILE, AUTOSOMAL RECESSIVE; PDJ B-Lymphocyte Cell Line
帕金；公园2 |帕金森病，青少年，常染色体隐性遗传； PDJ细胞株
Description描述：ND01037 is homozygous for a parkin exon 4 deletion; this deletion segregates as homozygous recessive in terms of causing Parkinson Disease. The brain MRI and CT scan for ND01037 were normal. ND01037 is an affected son of ND01039 (heterozygous carrier of parkin exon 4 deletion, has Essential Tremor Syndrome), and an affected brother of ND01038 and ND01040. The family history includes 2 other affected siblings (samples not available), and is indicated in pedigree NINDS0104. Dogu et al. 2004 characterizes this cosanguineous family (Movement Disorders 19: 812-828); see Kitada et al. 1998 (Nature 392: 605-608) for more about parkin exon 4 deletion and its role in Parkinson Disease.
Category分类：B-Lymphocyte
ID编号:NTCC®-ND01037
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:33 YR
Gender性别:Male
Cell Type细胞类型: PARKIN; PARK2 | PARKINSON DISEASE, JUVENILE, AUTOSOMAL RECESSIVE; PDJ
Affected State:Yes
Product:LCL
Gene:LRRK2 PARK2
Mutations突变:EX4DEL WILDTYPE for GLY2019
Ethnicity:TURKISH
Family:NINDS0104
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:

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