Name細胞名稱：NTCC? GM17583 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; also has triple X syndrome; normal growth parameters at birth; weak suck and poor weight gain in first few weeks of life; intestinal malrotation at 4 months; psychomotor development normal until 9 months when development slowed; walked at 16 months; head circumference and weight decreased at 6 months of age; regression of social skills evident at 20 months of age; bruxism, constipation and decreased sensitivity to pain developed at 21 months of age; significant delay in language development; no language and limited functional use of hands at age 6; MRI of cranium normal; EEG performed at 44 months showed intermittent occurence of epileptiform discharges, suggestive of partial seizures; supernumerary X chromosome is maternally derived; X-inactivation studies indicated preferential inactivation of the paternal allele; parental origin of MECP2 mutation could not be determined; donor subject has one allele that has a C>G transversion in the MBD coding region of the gene encoding methyl-CpG binding protein 2 (MECP2) resulting in a substitution of a valine for a leucine at codon 100 [Leu100Val (L100V)].
Category分類：B-Lymphocyte
ID編號:NTCC?-GM17583
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:7 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:LEU100VAL
Ethnicity:
Family:
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
Email：Biovector@163.com
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