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GM25247 LCL from B-Lymphocyte

Description:

NEPHROCEREBELLAR SYNDROME
GALLOWAY-MOWAT SYNDROME; GAMOS
WD REPEAT-CONTAINING PROTEIN 73; WDR73
WASP HOMOLOG ASSOCIATED WITH ACTIN, MEMBRANES, AND MICROTUBULES; WHAMM

Affected:

No

Sex:

Male

Age:

28 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
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race White
Ethnicity Not Hispanic/Latino
Ethnicity Amish
Country of Origin USA
Family Member 2
Family History N
Relation to Proband father
Confirmation Molecular characterization before cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Unaffected carrier of a c.888delT mutation in the WDR73 gene; father of affected daughter (GM25245); fibro is GM25248.

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by LINE assay
 
Gene WDR73
Chromosomal Location 15q25.2
Allelic Variant 1 ;
Identified Mutation c.888delT

Phenotypic Data

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Remarks Unaffected carrier of a c.888delT mutation in the WDR73 gene; father of affected daughter (GM25245); fibro is GM25248.

Publications

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Jinks RN, Puffenberger EG, Baple E, Harding B, Crino P, Fogo AB, Wenger O, Xin B, Koehler AE, McGlincy MH, Provencher MM, Smith JD, Tran L, Al Turki S, Chioza BA, Cross H, Harlalka GV, Hurles ME, Maroofian R, Heaps AD, Morton MC, Stempak L, Hildebrandt F, Sadowski CE, Zaritsky J, Campellone K, Morton DH, Wang H, Crosby A, Strauss KA, Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73 Brain : a journal of neurology138:2173-90 2014
PubMed ID: 26070982

External Links

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Gene Cards WDR73
WHAMM
NCBI GTR 251300 GALLOWAY-MOWAT SYNDROME 1; GAMOS1
612393 WAS PROTEIN HOMOLOG ASSOCIATED WITH ACTIN, GOLGI MEMBRANES, AND MICROTUBULES; WHAMM
616144 WD REPEAT-CONTAINING PROTEIN 73; WDR73
OMIM 251300 GALLOWAY-MOWAT SYNDROME 1; GAMOS1
612393 WAS PROTEIN HOMOLOG ASSOCIATED WITH ACTIN, GOLGI MEMBRANES, AND MICROTUBULES; WHAMM
616144 WD REPEAT-CONTAINING PROTEIN 73; WDR73

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
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How to Order
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