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GM17822 LCL from B-Lymphocyte

Description:

PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION; PKAN; HALLERVORDEN-SPATZ DISEASE INCLUDED
PANTOTHENATE KINASE 2; PANK2

Affected:

Yes

Sex:

Female

Age:

12 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
Class Disorders of the Nervous System
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race White
Ethnicity AMISH/SWISS
Relation to Proband proband
Confirmation Molecular characterization before cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Clinically affected; Amish of Swiss descent; severe dystonia; pigmentary retinopathy; progression to nonambulation early in the second decade; dysarthria; spasticity and rigidity; donor subject is homozygous for a 7-bp deletion in exon 2 of the PANK2 gene which results in a frameshift.

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
Gene PANK2
Chromosomal Location 20p13-p12.3
Allelic Variant 1 606157.0001; PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION
Identified Mutation 7-BP DEL, NT627; In an individual with classic pantothenate kinase-associated neurodegeneration (234200), Zhou et al. [Nature Genet. 28: 345-349, (2001)] identified a frameshift mutation in exon 2 in homozygosity.
 
Gene PANK2
Chromosomal Location 20p13-p12.3
Allelic Variant 2 606157.0001; PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION
Identified Mutation 7-BP DEL, NT627; In an individual with classic pantothenate kinase-associated neurodegeneration (234200), Zhou et al. [Nature Genet. 28: 345-349, (2001)] identified a frameshift mutation in exon 2 in homozygosity.

Phenotypic Data

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Remarks Clinically affected; Amish of Swiss descent; severe dystonia; pigmentary retinopathy; progression to nonambulation early in the second decade; dysarthria; spasticity and rigidity; donor subject is homozygous for a 7-bp deletion in exon 2 of the PANK2 gene which results in a frameshift.

Publications

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Zhou B, Westaway SK, Levinson B, Johnson MA, Gitschier J, Hayflick SJ, A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. Nat Genet28(4):345-9 2001
PubMed ID: 11479594
 
Taylor TD, Litt M, Kramer P, Pandolfo M, Angelini L, Nardocci N, Davis S, Pineda M, Hattori H, Flett PJ, Cilio MR, Bertini E, Hayflick SJ, Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20p12.3-p13. Nat Genet14(4):479-81 1996
PubMed ID: 8944032

External Links

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dbSNP dbSNP ID: 16007
Gene Cards PANK2
Gene Ontology GO:0004594 pantothenate kinase activity
GO:0005524 ATP binding
GO:0015937 coenzyme A biosynthesis
GO:0016740 transferase activity
NCBI Gene Gene ID:80025
NCBI GTR 234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1
606157 PANTOTHENATE KINASE 2; PANK2
OMIM 234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1
606157 PANTOTHENATE KINASE 2; PANK2
Omim Description HALLERVORDEN-SPATZ DISEASE
  NEUROAXONAL DYSTROPHY, LATE INFANTILE

Culture Protocols

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Split Ratio 1:3
Temperature 37 C
Percent CO2 5%
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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