Name：NTCC? NA25456 Fibroblast DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA25456
Size/Quantity數量: 1 Vial
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT
Storage儲存方式: 4C
Species物種來源:
Age年齡: 18 YR
Gender性別: Female
Description描述: RETT SYNDROME; RTT | METHYL-CPG-BINDING PROTEIN 2; MECP2
Remarks: 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.
Alternate IDs其他編號:
Cell Type細胞類型: Fibroblast
Source組織來源: Fibroblast
Gene: MECP2
Disease疾病類型:
Mutations突變: c.62+1delGT
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
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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
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