Description:
APPARENTLY HEALTHY INDIVIDUAL
OSTEOGENESIS IMPERFECTA, TYPE I; OI1
Repository
|
NIGMS Human Genetic Cell Repository
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Subcollection |
Apparently Healthy Collection Heritable Diseases |
Quantity |
25 µg |
Quantitation Method |
Please see our FAQ |
Biopsy Source
|
Peripheral vein
|
Sample Source
|
DNA from LCL
|
Race
|
White
|
Ethnicity
|
AMISH
|
Family Member
|
5
|
Relation to Proband
|
cousin
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
Remarks |
Clinically normal; white sclerae; good dentition; bone density score is normal; see GM17507 Fibroblast |
Zheng F, Chen Z, Li J, Wu R, Zhang B, Nie G, Xie Z, Zhang H, A Highly Sensitive CRISPR-Empowered Surface Plasmon Resonance Sensor for Diagnosis of Inherited Diseases with Femtomolar-Level Real-Time Quantification Advanced science (Weinheim, Baden-Wurttemberg, Germany)9:e2105231 2022 |
PubMed ID: 35343100 |
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