Name細胞名稱：NTCC? GM17540 RETT SYNDROME; RTT | METHYL-CPG-BINDING PROTEIN 2; MECP2 B-Lymphocyte Cell Line
雷特綜合癥；實時傳輸時間 |甲基-CPG-結合蛋白2； MECP2細胞株
Description描述：Clinically affected; seizures; ambulatory; occasional irritability and agitation; loss of purposeful hand use; repetitive hand motions; period of normal development until 6-8 months; affected brother is GM17538; mother is GM17539; mother is clinically unaffected but carries same mutation as her two affected children; donor subject carries a missense mutation (C>G) at nucleotide 401 (401C>G) in the gene encoding methyl-CpG binding protein 2 (MECP2), resulting in a substitution of a cysteine for a serine at amino acid 134 [SER134CYS (S134C)].
Category分類：B-Lymphocyte
ID編號:NTCC?-GM17540
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:9 YR
Gender性別:Female
Cell Type細胞類型: RETT SYNDROME; RTT | METHYL-CPG-BINDING PROTEIN 2; MECP2
Affected State:Yes
Product:LCL
Gene:MECP2
Mutations突變:SER134CYS
Ethnicity:
Family:2196
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:

Supplier供應商:BioVector質粒載體菌株細胞蛋白抗體基因保藏中心
NTCC典型培養物保藏中心
Tel電話：400-800-2947
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