GM23345
LCL from B-Lymphocyte
Description:
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20; BMIQ20
MELANOCORTIN 4 RECEPTOR; MC4R
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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Country of Origin
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USA
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Family History
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N
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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ISCN
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46,XX.arr(1-22,X)x2
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
MC4R |
| Chromosomal Location |
18q22 |
| Allelic Variant 1 |
; OBESITY |
| Identified Mutation |
806T>A |
| Remarks |
Clinically affected; night terrors at 18 months old; food obsession and weight gain at 3 years old; food seeking and food hiding behaviors at 5 years old; hyperphagia; behavior problems including rage episodes and impulsivity; anxious; attention deficient hyperactivity disorder; hypercholesterolemia (levels of 225-238 since age 2 years old); elevated cholesterol, triglyceride, and LDL cholesterol; obesity; asthma; nearsighted; uses glasses; astigmatism; short fourth and fifth metacarpals; fifth finger clinodactyly; tapering fingers; normal IQ; tall; heterozygous for a T>A transversion at nucleotide 806 in the MC4R gene (c.806T>A) resulting in amino acid change p.Ile269Asn; Prader-Willi Syndrome-like symptoms, though there is insufficient clinical evidence for PWS diagnosis; medications include albuterol; treatments include: dietary management. |
| Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
| PubMed ID: 23665875 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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