GM17602
Fibroblast from Skin, Unspecified
Description:
OSTEOGENESIS IMPERFECTA, TYPE IV; OI4
COLLAGEN, TYPE I, ALPHA-2; COL1A2
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
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Biopsy Source
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Unspecified
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Skin, Unspecified
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Race
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White
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Ethnicity
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AMISH
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Family Member
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19
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Relation to Proband
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niece
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Confirmation
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Molecular characterization before cell line submission to CCR
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Passage Frozen |
2 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
COL1A2 |
| Chromosomal Location |
7q21.3 |
| Allelic Variant 1 |
G610C; OSTEOGENESIS IMPERFECTA, TYPE IV |
| Identified Mutation |
GLY610CYS |
| Remarks |
Clinically affected; blue sclerae; good dentition; history of joint laxity; alkaline phosphatase is elevated; bone density score for spine and hip (neck) indicates osteopososis; affected father is GM17588 and affected grandfather is GM17586; see GM17603 Lymphoid; donor is heterozygous for the founder mutation which is a missense mutation resulting from a substitution of G>T at nucleotide 2237 in codon 610 in exon 35 of the COL1A2 gene [Gly610Cys (G610C)] |
| Gomez Ramos B, Ohnmacht J, de Lange N, Valceschini E, Ginolhac A, Catillon M, Ferrante D, Rakovic A, Halder R, Massart F, Arena G, Antony P, Bolognin S, Klein C, Krause R, Schulz MH, Sauter T, Krüger R, Sinkkonen L, Multiomics analysis identifies novel facilitators of human dopaminergic neuron differentiation EMBO reports: 2023 |
| PubMed ID: 38177910 |
| Passage Frozen |
2 |
| Split Ratio |
1:4 |
| 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 |
- |
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