Name細胞名稱：NTCC? GM20734 SMITH-MAGENIS SYNDROME; SMS | RETINOIC ACID-INDUCED GENE 1; RAI1 B-Lymphocyte Cell Line
史密斯-馬吉尼斯綜合癥；短信 |視黃酸誘導基因1； RAI1細胞株
Description描述：Clinically affected; born at 42 weeks gestation via cesarean section; birth weight = 4.3 kg; hypotonia, upslanting palpebral fissures and midface hypoplasia noted in neonatal period; significant delays with motor skills and language development; at age 18 months, long tantrums, attention seeking, and repetitive behaviors began; enuresis until age 12 years; frequent ear infections in childhood led to removal of tonsils and adenoids; short fingers and hands; clino-brachydactyly of fifth fingers bilaterally; at age 15 years, developmental age was 8-10 years; IQ = 67 on Wechsler scale at age 15 years; waddling gait; loud and hoarse voice; decreased sensitivity to pain; low-set ears; prognathism; brachycephaly; tented upper lip; broad, square face; no synophrys; myopia but no strabismus or iris abnormalities; no structural cardiovascular or renal anomalies; significant sleep disturbance including frequent napping and multiple night awakenings; self hugging/hand wringing; skin picking; onychotillomania; polyembolokoilamania; no hand biting or head banging; overeating and problems with weight management; at age 19 years weight >97th percentile and height about 75th percentile; at age 19 years, bipolar episodes exhibited; normal karyotype; negative Fragile X studies; normal FISH for del(22)(q11.2); normal FISH for del(17)(p11.2); donor subject has a de novo deletion of 19 base pairs starting at nucleotide 253 in exon 3 of the RAI1 gene [253del19] that causes a frameshift mutation leading to misincorporation of 60 amino acids followed by a stop codon.
Category分類：B-Lymphocyte
ID編號:NTCC?-GM20734
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: White
Age年齡:20 YR
Gender性別:Female
Cell Type細胞類型: SMITH-MAGENIS SYNDROME; SMS | RETINOIC ACID-INDUCED GENE 1; RAI1
Affected State:Yes
Product:LCL
Gene:RAI1
Mutations突變:253del19
Ethnicity:
Family:
Relationship:proband
Karyotype:46,XX.ish 17p13.3(LISIX2),17p11.2(FLIX2)
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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