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AG03505 LCL from B-Lymphocyte

Description:

HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS

Affected:

No

Sex:

Male

Age:

37 YR (At Sampling)

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

Overview

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Repository NIA Aging Cell Culture 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 MEXICAN
Family Member 3
Relation to Proband father
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Donor is a clinically unaffected father of an affected child. The culture was initiated on 5/16/79 by transformation of lymphocytes with Epstein Barr virus. The cells grow in suspension and their morphology is spherical. Blood specimen was obtained ante-mortem.

Phenotypic Data

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Remarks Donor is a clinically unaffected father of an affected child. The culture was initiated on 5/16/79 by transformation of lymphocytes with Epstein Barr virus. The cells grow in suspension and their morphology is spherical. Blood specimen was obtained ante-mortem.

Publications

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Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, Erdos MR, Robbins CM, Moses TY, Berglund P, Dutra A, Pak E, Durkin S, Csoka AB, Boehnke M, Glover TW, Collins FS, Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature423(6937):293-8 2003
PubMed ID: 12714972

External Links

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dbSNP dbSNP ID: 13765
NCBI GTR 176670 HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS
OMIM 176670 HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS
Omim Description HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS
  PROGERIA

Culture Protocols

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Split Ratio 1:4
Temperature 37 C
Percent CO2 5%
Medium Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum 20% fetal bovine serum Not Inactivated
Substrate None specified
Subcultivation Method dilution - add fresh medium
Supplement -
Pricing
Commercial:
$257.00USD
Academic &
Non-profit:
$103.00USD
NIA Grantees:
$47.00USD
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