Name細胞名稱：NTCC? GM27203 PITT-HOPKINS SYNDROME; PTHS | TRANSCRIPTION FACTOR 4; TCF4 B-Lymphocyte Cell Line
皮特霍普金斯綜合癥； PTHS |轉(zhuǎn)錄因子 4； TCF4細胞株
Description描述：Clinically affected; Pathogenic frameshift variant detected using Ambry Genetics Intellectual Disability Panel in the TCF4 gene - c.469delC (p.Arg157Glufs*77); premature delivery at 35 weeks and 3 days; absent sparse speech; hypotonia; delayed motor development; unstable ataxic gait; incoordination; square forehead; broad nasal bridge; wide open mouth; widely spaced teeth; cupped ears; fetal pads; occasional constipation; happy personality; sensory processing disorder; behavioral problems; wheelchair; communication learning device; wears glasses; physical therapy; occupational therapy; speech language therapy; special education services. _x000D_ Unaffected mother GM27205 (lymph) and GM27206 (fibro), Unaffected father GM27207 (lymph) and GM27208 (fibro).
Category分類：B-Lymphocyte
ID編號:NTCC?-GM27203
Size/Quantity數(shù)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:6 YR
Gender性別:Male
Cell Type細胞類型: PITT-HOPKINS SYNDROME; PTHS | TRANSCRIPTION FACTOR 4; TCF4
Affected State:Yes
Product:LCL
Gene:TCF4
Mutations突變:c.469delC (p.Arg157Glufs*77)
Ethnicity:Dutch
Family:3405
Relationship:proband
Karyotype:
Tissue Type組織來源:Blood
Complete Growth Medium完全培養(yǎng)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(yǎng)條件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鑒定數(shù)據(jù):
References參考文獻:

Supplier供應(yīng)商:BioVector質(zhì)粒載體菌株細胞蛋白抗體基因保藏中心
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