GM25456 RETT SYNDROME; RTT | METHYL-CPG-BINDING PROTEIN 2; MECP2 Skin, Skin Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM25456 RETT SYNDROME; RTT | METHYL-CPG-BINDING PROTEIN 2; MECP2 Skin, Skin Cell Line
雷特综合症；实时传输时间 |甲基-CPG-结合蛋白2； MECP2细胞株
Description描述：Clinically affected; onset of symptoms at 18 months of age; diagnosed by Rett Syndrome specialist and pediatrician at 2 years and 7 months of age; fatigue; lack of stamina to stand for long periods of time; pronounced hand dyspraxia and stereotypies (hand wringing, washing, and mouthing); loss of language skills; developmental disturbance with relatively severe mental retardation; EEG is moderately abnormal: ictal events with concomitant theta bursts in the posterior head regions, interictal paracentral epileptiform discharges and posterior background abnormality; good eye contact and normal gait suggesting a milder phenotype; normal biogenic amines (metabolites), folates, neurotransmitters, and pterins in cerebrospinal fluid (CSF); blood test showed a significant decrease of mRNA levels of the two isoforms MECP2A and MECP2B; automated fluorescent dye-terminator sequencing shows the subject has a de novo mutation, c.62+1delGT, at the intron 1 splice site of the MECP2 gene; X chromosome inactivation (XCI) studies on a leukocyte derived DNA sample demonstrated a borderline skewing with preferential inactivation of the paternal allele (68%/32%); a slight insignificant tendency was observed towards overexpression of the maternal chromosome in comparison to the paternal chromosome; uses communication/learning device; treatment and management include physical, occupational, and speech therapies; medications include valproate and clonazepam; subject is referred to by the mutation in the publication by Amir RE et al J Med Genet 2005 (PMID 15689438) and as patient H in the publication by Abuhatzira et al. Hum Genet 2005 (PMID 16133181); lymphoblast is GM25455.
Category分类：Fibroblast
ID编号:NTCC®-GM25456
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:18 YR
Gender性别:Female
Cell Type细胞类型: RETT SYNDROME; RTT | METHYL-CPG-BINDING PROTEIN 2; MECP2
Affected State:Yes
Product:Fibroblast
Gene:MECP2
Mutations突变:c.62+1delGT
Ethnicity:Polish/Jewish
Family:3222
Relationship:proband
Karyotype:
Tissue Type组织来源:Skin
Complete Growth Medium完全培养基: BioVector® Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids 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:

Supplier供应商:BioVector质粒载体菌株细胞蛋白抗体基因保藏中心
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