GM26063 PITT-HOPKINS SYNDROME; PTHS B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM26063 PITT-HOPKINS SYNDROME; PTHS B-Lymphocyte Cell Line
皮特霍普金斯综合症； PTHS细胞株
Description描述：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.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM26063
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:3 YR
Gender性别:Female
Cell Type细胞类型: PITT-HOPKINS SYNDROME; PTHS
Affected State:Yes
Product:LCL
Gene:TCF4
Mutations突变:Arg262ProfsX3 (c.784-785insCA)
Ethnicity:Italian, Scottish, French, English, Irish
Family:
Relationship:proband
Karyotype:
Tissue Type组织来源:Blood
Complete Growth Medium完全培养基: BioVector® Roswell Park Memorial Institute Medium 1640 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
NTCC典型培养物保藏中心
Tel电话：400-800-2947
Email：Biovector@163.com
http://www.biovector.net