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GM15603 LCL from B-Lymphocyte

Description:

UNIPARENTAL DISOMY CHROMOSOME 8
COPY NUMBER VARIATION (CNV) REFERENCE PANEL

Affected:

Yes

Sex:

Male

Age:

39 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Culture Protocols

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Chromosome Abnormalities
dbGaP
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race White
Relation to Proband proband
Confirmation Molecular characterization after cell line submission to CCR
ISCN 46,XY.arr[hg19]8p23.3p23.1(161,221-6,815,328)hmz,8p23.1p11.21(8,087,143-42,858,299)hmz
Species Homo sapiens
Common Name Human
Remarks Uniparental isodisomy for chromosome 8; history of asthma as child; at age 13 years a torsion of appendix testis on the left side was diagnosed and at the time of surgery two appendices were discovered with normal pathology; at age 14 years a pea-sized lump was removed from the area of the right slighlty gynecomastic breast; at age 26 years an ileal carcinoid tumor of about 1 cm in diameter was removed proximal from the ileocecal junction and tumor cells also found in four enlarged regional lymph nodes; at age 33 years joint pain developed in the proximal interphalangeal joint of the left index finger, left ankle, and left knee; swollen joints; the sedimentation rate was high (over 90); HLA B27 was positive; serologic tests for rheumatoid arthritis were negative; symptoms of early presbyopia at age 39 years; slight thoracal scoliosis; numerous pigmented nevi and histology on one indicated a normal nevus pigmentosus intradermalis; several small cherry hemangiomas on trunk; three irregularly shaped depigmented maculae of about 2 cm diameter each on the right scapular region; normal intelligence.

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
UNIPARENTAL DISOMY MOLECULAR ANALYSIS This cell line was submitted as a uniparental disomy for chromosome 8. Genomic DNA from this culture was genotyped with di-nucleotide microsatellite markers from the ABI Linkage Mapping Panel version 2. Fourteen microsatellite markers on chromosome 8 were genotyped. All of these were homozygous in GM15603, whereas only 2 out of 14 were homozygous in a control line (GM06990). Additional microsatellite markers for chromosomes 1, 2, 3, and 4 were assayed and indicate a normal frequency of homozygous and heterozygous genotypes. The results were consistent with a uniparental disomy for chromosome 8.
 
CNVPANEL For more information click here:CNVPANEL01
 

Phenotypic Data

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Remarks Uniparental isodisomy for chromosome 8; history of asthma as child; at age 13 years a torsion of appendix testis on the left side was diagnosed and at the time of surgery two appendices were discovered with normal pathology; at age 14 years a pea-sized lump was removed from the area of the right slighlty gynecomastic breast; at age 26 years an ileal carcinoid tumor of about 1 cm in diameter was removed proximal from the ileocecal junction and tumor cells also found in four enlarged regional lymph nodes; at age 33 years joint pain developed in the proximal interphalangeal joint of the left index finger, left ankle, and left knee; swollen joints; the sedimentation rate was high (over 90); HLA B27 was positive; serologic tests for rheumatoid arthritis were negative; symptoms of early presbyopia at age 39 years; slight thoracal scoliosis; numerous pigmented nevi and histology on one indicated a normal nevus pigmentosus intradermalis; several small cherry hemangiomas on trunk; three irregularly shaped depigmented maculae of about 2 cm diameter each on the right scapular region; normal intelligence.

Publications

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Walters-Sen L, Neitzel D, Bristow SL, Mitchell A, Alouf CA, Aradhya S, Faulkner N, Experience analysing over 190,000 embryo trophectoderm biopsies using a novel FAST-SeqS preimplantation genetic testing assay Reproductive biomedicine online44:228-238 2021
PubMed ID: 35039224
 
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
 
Northrop LE, Treff NR, Levy B, Scott RT, SNP microarray-based 24 chromosome aneuploidy screening demonstrates that cleavage-stage FISH poorly predicts aneuploidy in embryos that develop to morphologically normal blastocysts Molecular human reproduction16:590-600 2010
PubMed ID: 20479065

External Links

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dbSNP dbSNP ID: 12252
GEO GEO Accession No: GSM469004
GEO Accession No: GSM469005
GEO Accession No: GSM469006
GEO Accession No: GSM469007

Culture Protocols

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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 -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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