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GM25246 Fibroblast from Skin, Arm

Description:

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

Affected:

Yes

Sex:

Female

Age:

2 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 Arm
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Sample Source Fibroblast from Skin, Arm
Race White
Ethnicity Not Hispanic/Latino
Ethnicity Amish
Country of Origin USA
Family Member 1
Family History N
Relation to Proband proband
Confirmation Molecular characterization before cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Clinically affected; onset of symptoms as an infant; diagnosed at less than 1 year of age; microcephaly; dystonia; seizures; corticovisual impairment; global developmental delay; WDR73 gene tested using high resolution melting analysis; homozygous for c.888delT mutation in the WDR73 gene and heterozygous for a c.1264_1270delATAAAAG mutation in the WHAMM gene [please refer to publication by Jinks et al PMID: 26070982]; surgeries: gastrostomy (jejunostomy) tube placement; assistive devices: wheelchair; medications: diazepam and keppra; mother (GM25249) and father (GM25247/GM25248) are both unaffected heterozygous carriers for the c.888delT mutation in the WDR73 gene; subject has 3 affected siblings and 1 unaffected sibling (not in repository); lymphoblast is GM25245. This fibroblast is a characteristically poor grower and will only be shipped frozen.

Characterizations

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PDL at Freeze 0.82
Passage Frozen 7
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by LINE assay
 
Gene WHAMM
Chromosomal Location 15q25.2
Allelic Variant 1 ;
Identified Mutation c.1264_1270delATAAAAG; WASP HOMOLOG ASSOCIATED WITH ACTIN, MEMBRANES, AND MICROTUBULES
 
Gene WDR73
Chromosomal Location 15q25.2
Allelic Variant 1 ;
Identified Mutation c.888delT
 
Gene WDR73
Chromosomal Location 15q25.2
Allelic Variant 2 ;
Identified Mutation c.888delT

Phenotypic Data

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Remarks Clinically affected; onset of symptoms as an infant; diagnosed at less than 1 year of age; microcephaly; dystonia; seizures; corticovisual impairment; global developmental delay; WDR73 gene tested using high resolution melting analysis; homozygous for c.888delT mutation in the WDR73 gene and heterozygous for a c.1264_1270delATAAAAG mutation in the WHAMM gene [please refer to publication by Jinks et al PMID: 26070982]; surgeries: gastrostomy (jejunostomy) tube placement; assistive devices: wheelchair; medications: diazepam and keppra; mother (GM25249) and father (GM25247/GM25248) are both unaffected heterozygous carriers for the c.888delT mutation in the WDR73 gene; subject has 3 affected siblings and 1 unaffected sibling (not in repository); lymphoblast is GM25245. This fibroblast is a characteristically poor grower and will only be shipped frozen.

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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Cumulative PDL at Freeze 3.97
Passage Frozen 7
Temperature 37 C
Percent CO2 5%
Percent O2 3%
Medium Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not inactivated
Substrate Commercially-treated plastic
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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