Name：NTCC? NA26063 LCL DNA
Category分類：DNA
Cat#貨號(hào):NTCC?-Coriell NA26063
Size/Quantity數(shù)量: 1 Vial
Biosafety Level生物安全級(jí)別:1
Shipping Info運(yùn)輸方式: RT
Storage儲(chǔ)存方式: 4C
Species物種來源:
Age年齡: 3 YR
Gender性別: Female
Description描述: PITT-HOPKINS SYNDROME; PTHS
Remarks: Clinically affected; onset of symptoms at 6 months; diagnosed at 2.5 years; mild dysmorphic features: slightly triangular face and small chin; microcephaly; cortical visual impairment; amblyopia (left eye); exotropia; staring spells; hypotonia; limited walking ability; constipation; global developmental delay; happy disposition; developmental milestones: first rolled over at 5 months old (but lost ability at 6 months until 12 months), could sit with support by 12 months of age; able to pull stand at 2.5 years, but not walking independent of a PT walker; unable to feed herself at 2.5 years; started to babble at 7 months old, at 2.5 years, non-verbal and with basic receptive language abilities; brain MRI and EEG at 3 years were normal; heterozygous for a de novo novel variant in the TCF4 gene: c.784_785insCA (p.Arg262ProfsX3) (human genome build GRCh37/UCSC hg19); medications/supplements: magnesium hydroxide, ergocalciferol (Vit D2), lactobacillus combo no.11, omega-3s/dha/epa/fish oil, surgeries: bilateral lateral rectus recession, left medial rectus resection, tympanostomy tubes (bilateral); assistive devices: walker; glasses; therapies: occupational, physical, and speech; family history: male maternal cousin with intermittent exotropia and delayed walking-developmentally normal at 5 years of age; female first cousin-once removed with epilepsy diagnosed in her 20s-seizures controlled with medication.
Alternate IDs其他編號(hào):
Cell Type細(xì)胞類型: LCL
Source組織來源: LCL
Gene: TCF4
Disease疾病類型:
Mutations突變: Arg262ProfsX3 (c.784-785insCA)
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
References參考文獻(xiàn):

Supplier供應(yīng)商:
BioVector質(zhì)粒載體菌株細(xì)胞蛋白抗體基因保藏中心
NTCC典型培養(yǎng)物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
http://www.biovector.net