Name細胞名稱：NTCC? GM21911 RETT SYNDROME; RTT | INCONTINENTIA PIGMENTI; IP | METHYL-CPG-BINDING PROTEIN 2; MECP2 B-Lymphocyte Cell Line
雷特綜合癥；實時傳輸時間 |色素失禁；知識產權|甲基-CPG-結合蛋白2； MECP2細胞株
Description描述：Clinically affected with incomplete features of Rett syndrome; at birth her right leg had faint red papules that extended from groin to calf; papules were replaced by hyperpigmentation at age 1 month; lesion biopsy at age 3 years revealed prominent spongiosis and cytoid bodies in the dermis together with superficial perivascular infiltrate, prominent pigment incontinence and abundant eosinophils; histopathology was consistent with diagnosis of incontinentia pigmenti; regression of speech occurred at age 2 months; she gradually lost learned hand skills and developed frequent hand-washing movements; autistic features with gaze avoidance and bruxism; hypotonia; donor subject has a 1 bp deletion at nucleotide 411 in exon 3 of the MECP2 gene (411delG) resulting in a premature stop codon [Leu168Ter (L138X)]
Category分類：B-Lymphocyte
ID編號:NTCC?-GM21911
Size/Quantity數量: 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:
Age年齡:
Gender性別:Female
Cell Type細胞類型: RETT SYNDROME; RTT | INCONTINENTIA PIGMENTI; IP | METHYL-CPG-BINDING PROTEIN 2; MECP2
Affected State:Yes
Product:LCL
Gene:MECP2
Mutations突變:411delG
Ethnicity:
Family:
Relationship:proband
Karyotype:
Tissue Type組織來源:Blood
Complete Growth Medium完全培養基: 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培養條件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鑒定數據:
References參考文獻:

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