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AG20442 Fibroblast from Skin, Unspecified

Description:

PARKINSON DISEASE

Affected:

Yes

Sex:

Male

Age:

53 YR (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 Unspecified
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Sample Source Fibroblast from Skin, Unspecified
Race White
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically affected; onset at age 51 with stiff neck which began to involve his right side; mild intermittent resting tremor; rigidity on right side with relatively good movement on left side of body; cog-wheel rigidity; akinesia; seborrhea; akathisia; deep tendon reflexes are hypoactive, but symmetric; bilateral flexor plantar responses; treated and improved with Sinemet; when not taking medication, he has more rightside stiffness and akathisia; negative family history; see AG20441 Lymphoid

Characterizations

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PDL at Freeze 5.11
Passage Frozen 8
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin confirmed by LINE assay
 

Phenotypic Data

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Remarks Clinically affected; onset at age 51 with stiff neck which began to involve his right side; mild intermittent resting tremor; rigidity on right side with relatively good movement on left side of body; cog-wheel rigidity; akinesia; seborrhea; akathisia; deep tendon reflexes are hypoactive, but symmetric; bilateral flexor plantar responses; treated and improved with Sinemet; when not taking medication, he has more rightside stiffness and akathisia; negative family history; see AG20441 Lymphoid

Publications

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Mollinari C, De Dominicis C, Lupacchini L, Sansone L, Caprini D, Casciola CM, Wang Y, Zhao J, Fini M, Russo M, Garaci E, Merlo D, Detection of Pathological Markers of Neurodegenerative Diseases following Microfluidic Direct Conversion of Patient Fibroblasts into Neurons International journal of molecular sciences23: 2021
PubMed ID: 35216271
 
Iannuzzi F, Frisardi V, Annunziato L, Matrone C, Might Fibroblasts from Patients with Alzheimer's Disease Reflect the Brain Pathology? A Focus on the Increased Phosphorylation of Amyloid Precursor Protein Tyr Brain sciences11: 2020
PubMed ID: 33466666
 
Murti H, Pieknell K, Bachtiar I, Sari SY, Sulistio YA, Lee SH, Establishment human induced pluripotent stem cell line from idiopathic non-familial Parkinson's disease patient using self-replicating RNA vector Stem cell research50:102137 2020
PubMed ID: 33418202

External Links

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dbSNP dbSNP ID: 18574
GEO GEO Accession No: GSM574060
NCBI GTR 168600 PARKINSON DISEASE, LATE-ONSET; PD
OMIM 168600 PARKINSON DISEASE, LATE-ONSET; PD
Omim Description PARKINSON DISEASE 1
  PARKINSON DISEASE; PD
  PARKINSONISM

Culture Protocols

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Passage Frozen 8
Split Ratio 1:2
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
Supplement -
Pricing
Commercial:
$257.00USD
Academic &
Non-profit:
$103.00USD
NIA Grantees:
$47.00USD
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