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GM21889 Fibroblast from Skin, Unspecified

Description:

PRADER-WILLI SYNDROME; PWS
TRANSLOCATED CHROMOSOME

Affected:

Yes

Sex:

Male

Age:

8 YR (At Sampling)

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Chromosome Abnormalities
dbGaP
Biopsy Source Unspecified
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Sample Source Fibroblast from Skin, Unspecified
Race Black/African American
Ethnicity AFRICAN-AMERICAN
Relation to Proband proband
Confirmation Karyotypic analysis after cell line submission to CCR
ISCN 46,XY,t(4;15)(q27;q11.2).arr[hg19] 15q11.1q11.2(20,590,014-22,681,064)x3,15q14(34,695,309-34,830,932)x1,15q26.2(97,904,695-98,248,738)x1,15q26.3(98,672,640-98,723,679)x1,15q26.3(98,849,829-99,686,821)x1
Species Homo sapiens
Common Name Human
Remarks Clinically affected; at age 19 months was diagnosed with IgG-4 deficiency and therapy with intravenous gamma-globulin was started; undescended testicles did not respond to beta-human chorionic gonadotropin; diagnosed with hypertension at age 2; hypotonia; failure to thrive; poor suck; eating behavior leading to weight gain; narrow bifrontal diameter; almond-shaped upslanted palpebral fissures; narrow arched palate; did not have small hands or feet

Characterizations

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Passage Frozen 2
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin confirmed by LINE assay
 
Cytogenetics Chromosome 15: TRANSLOCATION Breakpoint 15q11
Chromosome 4: TRANSLOCATION Breakpoint 4q27

Phenotypic Data

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Remarks Clinically affected; at age 19 months was diagnosed with IgG-4 deficiency and therapy with intravenous gamma-globulin was started; undescended testicles did not respond to beta-human chorionic gonadotropin; diagnosed with hypertension at age 2; hypotonia; failure to thrive; poor suck; eating behavior leading to weight gain; narrow bifrontal diameter; almond-shaped upslanted palpebral fissures; narrow arched palate; did not have small hands or feet

Publications

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Huang WK, Wong SZH, Pather SR, Nguyen PTT, Zhang F, Zhang DY, Zhang Z, Lu L, Fang W, Chen L, Fernandes A, Su Y, Song H, Ming GL, Generation of hypothalamic arcuate organoids from human induced pluripotent stem cells Cell stem cell28:1657-1670.e10 2020
PubMed ID: 33961804
 
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
 
Gallagher RC, Pils B, Albalwi M, Francke U, Evidence for the role of PWCR1/HBII-85 C/D box small nucleolar RNAs in Prader-Willi syndrome American journal of human genetics71:669-78 2002
PubMed ID: 12154412
 
Kuslich CD, Kobori JA, Mohapatra G, Gregorio-King C, Donlon TA, Prader-Willi syndrome is caused by disruption of the SNRPN gene American journal of human genetics64:70-6 1999
PubMed ID: 9915945

External Links

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NCBI Gene Gene ID:5821
NCBI GTR 176270 PRADER-WILLI SYNDROME; PWS
OMIM 176270 PRADER-WILLI SYNDROME; PWS
Omim Description PRADER-LABHART-WILLI SYNDROME
  PRADER-WILLI SYNDROME CHROMOSOME REGION; PWCR
  PRADER-WILLI SYNDROME; PWS

Images

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View FISH 
FISH 
FISH 
karyotype 
karyotype 
karyotype 
karyotype 

Culture Protocols

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Passage Frozen 2
Split Ratio 1:5
Temperature 37 C
Percent CO2 5%
Percent O2 10%
Medium Dulbecco Modified Eagles Medium (high glucose) with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not inactivated
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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