Repository NINDS Repository
Subcollection Huntington's Disease
HD fibroblasts
Control human fibroblast sample expanded and characterized in-house
Quantity 20 µg
Quantitation Method Please see our FAQ
Biopsy Source Skin
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Race Unknown
Subject Type family with at least 3 members, including 1 proband, not a trio
Family Type NUCLEAR FAMILIES - ONE AFFECTED
Country of Origin USA
Family Member 2
Family History N
Relation to Proband wife
Species Homo sapiens
Common Name Human
PDL at Freeze 5.09
Passage Frozen 2
 
Gene HD
Chromosomal Location 4p16.3
Allelic Variant 1 ;
Identified Mutation CAG:21
Demographic Data
Relation to Proband wife
Subject Currect Age 52 YR
Gender Female
Age of Onset(If not a control) No Data
Age at Diagnosis(If not a control) No Data
Hispanic or Latino/Not Hispanic or Latino not yet reported
Racial Category Unknown
Country USA
Diagnosed By No Data
 
Data Elements
Clinical Element Type: Huntington Disease
  (Baseline)
HD Medical History
Indicate past or current symptoms that you feel are suggestive of HD Motor (e.g. clumsiness, involuntary movements, poor balance)
Cognitive (e.g. trouble with memory, judgment, concentration)
Psychiatric (e.g. personality change, irritability, mood swings, depression, decreased motivation)
Oculomotor
Other (e.g., weight loss, insomnia)
None: no clinical signs of HD
If other, please specify:  No Data
HD Family History
Father affected and/or gene positive:  No Data
If yes, age of onset:  No Data
Repository ID (if applicable)  No Data
Mother affected and/or gene positive:  No Data
If yes, age of onset:  No Data
Repository ID (if applicable)  No Data
Sibling(s) affected and/or gene positive:  No Data
Children affected and/or gene positive: Yes   No 
Sibling/Child 1  Daughter
Age of onset:  ASYMPTOMATIC
Repository ID (if applicable)  ND30015
Sibling/Child 2  Daughter
Age of onset:  ASYMPTOMATIC
Repository ID (if applicable)  ND30016
Sibling/Child 3  No Data
Age of onset:  No Data
Repository ID (if applicable)  No Data
Sibling/Child 4  No Data
Age of onset:  No Data
Repository ID (if applicable)  No Data
Sibling/Child 5  No Data
Age of onset:  No Data
Repository ID (if applicable)  No Data
Sibling/Child 6  No Data
Age of onset:  No Data
Repository ID (if applicable)  No Data
Other siblings or children, age of onset:  No Data
Repository ID (if applicable)  No Data
Spouse affected and/or gene positive: Yes   No 
Repository ID (if applicable)  ND30013
Other family members affected and/or gene positive, age of onset, Repository ID(s):  No Data
Notes:  No Data
Subject HD Status
Subject HD Status HD: known affected (testing data below)  At risk: unknown gene status; subject with affected parent(s) and/or sibling(s)  At risk: gene positive (CAG repeat length greater than or equal to 36) but without clinical signs of HD (testing data below)  Unaffected: gene negative (CAG repeat length less than 36) and without clinical signs of HD (testing data below)   Unaffected: unknown gene status; subject with unaffected parents and siblings 
Has subject had genetic testing? Yes   No 
CAG Repeat Length: Allele 1:  21
CAG Repeat Length: Allele 2:  18
Optional Data
UHDRS Total Motor Score:  No Data
UHDRS Total Behavior Score:  No Data
UHDRS Total Functional Capacity (TFC) score:  No Data
No data is available
No data is available
Cumulative PDL at Freeze 5.1
Passage Frozen 2
Temperature 37 C
Percent CO2 5%
Percent O2 3%
Medium Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids
Serum 10% fetal bovine serum Not inactivated
Substrate None specified
Subcultivation Method trypsin-EDTA