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AG09233 Fibroblast from Skin, Skin

Description:

PROGEROID SYNDROME, NEONATAL

Affected:

Yes

Sex:

Male

Age:

8 MO (At Sampling)

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

Overview

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Repository NIA Aging Cell Culture Repository
Subcollection Heritable Diseases
Biopsy Source Skin
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Sample Source Fibroblast from Skin, Skin
Race White
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks The donor had a severe lack of subcutaneous fat at birth. Other clinical features included increased ventricle size, poor weight gain, small body with large head, sunken eyes, blue sclerae, wide open anterior fontanelle, no teeth, sparse scalp hair, and developmental delay. The skin biopsy was taken post-mortem. The culture was initiated on 11/21/86 using explants of minced skin tissue. The cell morphology is fibroblast-like. A matching lung fibroblast culture from same donor is AG09279. DNA sequencing found no mutations in the Lamin A gene (LMNA).

Characterizations

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Passage Frozen 3
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 

Phenotypic Data

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Remarks The donor had a severe lack of subcutaneous fat at birth. Other clinical features included increased ventricle size, poor weight gain, small body with large head, sunken eyes, blue sclerae, wide open anterior fontanelle, no teeth, sparse scalp hair, and developmental delay. The skin biopsy was taken post-mortem. The culture was initiated on 11/21/86 using explants of minced skin tissue. The cell morphology is fibroblast-like. A matching lung fibroblast culture from same donor is AG09279. DNA sequencing found no mutations in the Lamin A gene (LMNA).

Publications

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Della Valle F, Reddy P, Yamamoto M, Liu P, Saera-Vila A, Bensaddek D, Zhang H, Prieto Martinez J, Abassi L, Celii M, Ocampo A, Nuñez Delicado E, Mangiavacchi A, Aiese Cigliano R, Rodriguez Esteban C, Horvath S, Izpisua Belmonte JC, Orlando V, LINE-1 RNA causes heterochromatin erosion and is a target for amelioration of senescent phenotypes in progeroid syndromes Science translational medicine14:eabl6057 2022
PubMed ID: 35947677
 
Cao H, Hegele RA, LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090). J Hum Genet48(5):271-4 2003
PubMed ID: 12768443

External Links

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dbSNP dbSNP ID: 10196
NCBI GTR 264090 WIEDEMANN-RAUTENSTRAUCH SYNDROME; WDRTS
OMIM 264090 WIEDEMANN-RAUTENSTRAUCH SYNDROME; WDRTS
Omim Description PROGEROID SYNDROME, NEONATAL
  WIEDEMANN-RAUTENSTRAUCH SYNDROME

Culture Protocols

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Passage Frozen 3
Split Ratio 1:5
Temperature 37 C
Percent CO2 5%
Medium Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not inactivated
Substrate None specified
Subcultivation Method trypsin-EDTA
Supplement -
Pricing
Commercial:
$257.00USD
Academic &
Non-profit:
$103.00USD
NIA Grantees:
$47.00USD
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