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GM22627 LCL from B-Lymphocyte

Description:

POTOCKI-SHAFFER SYNDROME
CHROMOSOME DELETION

Affected:

Yes

Sex:

Male

Age:

No Data

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Chromosome Abnormalities
Heritable Diseases
dbGaP
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Relation to Proband proband
Confirmation Karyotypic analysis before cell line submission to CCR
ISCN 46,XY.arr 11p11.2(43726534-44909506)x1
Species Homo sapiens
Common Name Human
Remarks Clinically affected; two affected children; multiple exostoses; mother, maternal grandmother and maternal great grandfather with multiple exostoses

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin confirmed by LINE assay
 
Cytogenetics Chromosome 11: DELETION Aneuploid Segment (-)11p11>11p12

Phenotypic Data

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Demographic Data
Relation to Proband proband
Sex Male
 
Data Elements
Clinical Element Type: Potocki-Shaffer Syndrome
  (Baseline)
Inheritance
Parental origin of del(11)  Maternal
Skull
Parietal foramen  Yes
Brachycephaly  Unknown
Turricephaly  Unknown
Craniofacial dysostosis  Unknown
Microcephaly  Unknown
Large fontanel  Unknown
Facial
Aniridia  Unknown
Sparse lateral eyebrows  Unknown
Epicanthal folds  Unknown
Prominent nasal bridge  Unknown
Prominent nose  Unknown
Short philtrum  Unknown
Downturned mouth  Unknown
Protuberant ears  Yes
Skeletal
Short stature  Unknown
Multiple exostoses  Yes
Scoliosis  Unknown
Osteochondroma  Unknown
Limbs
Cutaneous syndactyly between fingers 2 and 5  Unknown
Brachydactyly  Unknown
Neurological
Developmental delay/mental retardation  No
Central nervous system malformation  Unknown
Corpus callosum  Unknown
Sensorineural hearing loss  Unknown
Genitourinary
Hypospadias  Unknown
Cryptorchidism  Unknown
Micropenis  Unknown
Renal malformation  Unknown
Wilms tumor  Unknown
Remarks Clinically affected; two affected children; multiple exostoses; mother, maternal grandmother and maternal great grandfather with multiple exostoses

Publications

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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
 
Wakui K, Gregato G, Ballif BC, Glotzbach CD, Bailey KA, Kuo PL, Sue WC, Sheffield LJ, Irons M, Gomez EG, Hecht JT, Potocki L, Shaffer LG, Construction of a natural panel of 11p112 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome European journal of human genetics : EJHG13:528-40 2005
PubMed ID: 15852040
 
Hall CR, Wu Y, Shaffer LG, Hecht JT, Familial case of Potocki-Shaffer syndrome associated with microdeletion of EXT2 and ALX4 Clinical genetics60:356-9 2002
PubMed ID: 11903336

External Links

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NCBI GTR 601224 POTOCKI-SHAFFER SYNDROME
OMIM 601224 POTOCKI-SHAFFER SYNDROME
Omim Description DEFECT 11 CONTIGUOUS GENE SYNDROME

Images

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View karyotype 
karyotype 
karyotype 

Culture Protocols

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Split Ratio 1:2
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
Add to Cart
How to Order
  • Ordering Instructions
  • MTA / Assurance Form
  • Statement of Research Intent Form
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