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GM00072 Fibroblast

Description:

WOLF-HIRSCHHORN SYNDROME; WHS
CHROMOSOME DELETION

Affected:

No Data

Sex:

Male

Age:

11 YR (At Sampling)

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Chromosome Abnormalities
dbGaP
Class Other Disorders of Known Biochemistry
Cell Type Fibroblast
Transformant Untransformed
Race White
Relation to Proband proband
Confirmation Clinical summary/Case history
ISCN 46,XY,del(4)(p15.2)[8]/46,XY,del(4)(p15.2),dup(7)(q32q21)[2].arr 4p16.3p15.2(1618261-25512740)x1
Species Homo sapiens
Common Name Human
Remarks 46,XY,del(4)(qter>p14:)

Characterizations

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Passage Frozen 15
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Chromosome Analysis
 
Cytogenetics Chromosome 4: DELETION Aneuploid Segment (-)4pter>4p14

Phenotypic Data

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Remarks 46,XY,del(4)(qter>p14:)

Publications

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Goh CJ, Kwon HJ, Kim Y, Jung S, Park J, Lee IK, Park BR, Kim MJ, Kim MJ, Lee MS, Improving CNV Detection Performance in Microarray Data Using a Machine Learning-Based Approach Diagnostics (Basel, Switzerland)14: 2023
PubMed ID: 38201393
 
Kucharik M, Gnip A, Hyblova M, Budis J, Strieskova L, Harsanyova M, Pös O, Kubiritova Z, Radvanszky J, Minarik G, Szemes T, Non-invasive prenatal testing (NIPT) by low coverage genomic sequencing: Detection limits of screened chromosomal microdeletions PloS one15:e0238245 2020
PubMed ID: 32845907
 
Victor AR, Tyndall JC, Brake AJ, Lepkowsky LT, Murphy AE, Griffin DK, McCoy RC, Barnes FL, Zouves CG, Viotti M, One hundred mosaic embryos transferred prospectively in a single clinic: exploring when and why they result in healthy pregnancies Fertility and sterility111:280-293 2018
PubMed ID: 30691630
 
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
 
Schmutz SM, Simpson NE, Suggested assignment of peptidase S (PEPS) to 4p11-4q12 by exclusion using gene dosage, accounting for variability in fibroblasts. Hum Genet64:134-8 1983
PubMed ID: 6350155
 
Schmutz, Suggested assignment of peptidase S(PEPS ) to 4p12>q12 by exclusion using gene dosage. Cytogenet Cell Genet32:315 (1982):134-8 1982
PubMed ID: 6350155
 
Breg WR, Aronson MM, Greene AE, Coriell LL, Deletion of the short arm of chromosome 4 from a subject with Wolf's syndrome. Repository identification no. GM-72. Cytogenet Cell Genet18:307-8 1977
PubMed ID: 560288
 
Tan YH, Greene AE, Subregional localization of the gene(s) governing the human interferon induced antiviral state in man. J Gen Virol32:153-5 1976
PubMed ID: 182912
 
Tan YH, Chou EL, Lundh N, Regulation of chromosome 21-directed anti-viral gene(s) as a consequence of age. Nature257:310-2 1975
PubMed ID: 1161032

External Links

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dbSNP dbSNP ID: 10312
NCBI Gene Gene ID:7467
NCBI GTR 194190 WOLF-HIRSCHHORN SYNDROME; WHS
OMIM 194190 WOLF-HIRSCHHORN SYNDROME; WHS
Omim Description WOLF-HIRSCHHORN CHROMOSOME REGION; WHCR
  WOLF-HIRSCHHORN SYNDROME; WHS

Culture Protocols

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Passage Frozen 15
Split Ratio 1:3
Temperature 37 C
Percent CO2 5%
Medium Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not inactivated
Substrate None specified
Subcultivation Method trypsin-EDTA
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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How to Order
  • Ordering Instructions
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