Name細胞名稱：NTCC? ND01037 PARKIN; PARK2 | PARKINSON DISEASE, JUVENILE, AUTOSOMAL RECESSIVE; PDJ B-Lymphocyte Cell Line
帕金；公園2 |帕金森病，青少年，常染色體隱性遺傳； PDJ細胞株
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分類：B-Lymphocyte
ID編號:NTCC?-ND01037
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:33 YR
Gender性別:Male
Cell Type細胞類型: PARKIN; PARK2 | PARKINSON DISEASE, JUVENILE, AUTOSOMAL RECESSIVE; PDJ
Affected State:Yes
Product:LCL
Gene:LRRK2 PARK2
Mutations突變:EX4DEL WILDTYPE for GLY2019
Ethnicity:TURKISH
Family:NINDS0104
Relationship:proband
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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