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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
PIGI Consented Sample |
|
Biopsy Source
|
Thigh
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
Fibroblast from Skin, Thigh
|
|
Race
|
White
|
|
Subject Type
|
family with at least 3 members, including 1 proband, not a trio
|
|
Family Type
|
NUCLEAR FAMILIES - ONE AFFECTED
|
|
Ethnicity
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Not Hispanic/Latino
|
|
Country of Origin
|
USA
|
|
Family Member
|
3
|
|
Family History
|
N
|
|
Relation to Proband
|
father
|
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|