GM21902
LCL from B-Lymphocyte
Description:
GROWTH HORMONE INSENSITIVITY SYNDROME
GROWTH HORMONE RECEPTOR; GHR
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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Race
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Black/African American
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Ethnicity
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SOUTH AFRICAN
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Family Member
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1
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Relation to Proband
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proband
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| Gene |
GHR |
| Chromosomal Location |
5p13-p12 |
| Allelic Variant 1 |
600946.0013; LARON SYNDROME |
| Identified Mutation |
2-BP DEL, FS234TER; In a South African patient with Laron syndrome and nonconsanguineous parents, Berg et al. (1993) found homozygosity for deletion of either TA or AT at codon 230 in exon 7 of the GHR gene.
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| Gene |
GHR |
| Chromosomal Location |
5p13-p12 |
| Allelic Variant 2 |
600946.0013; LARON SYNDROME |
| Identified Mutation |
2-BP DEL, FS234TER; In a South African patient with Laron syndrome and nonconsanguineous parents, Berg et al. (1993) found homozygosity for deletion of either TA or AT at codon 230 in exon 7 of the GHR gene.
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| Remarks |
Clinically affected; height 74.4 cm; random growth hormone level was 34; IGF-I level was less than 10 (normal 70-288); IGF-II level was 16 (normal 334-642); IGFBP3 level was 0.11 (normal 1.5-3.4); GHBP activity was 5.2% of normal; donor subject is presumed homozygous for a 2 bp deletion involving codon 230 in exon 7 of the GHR gene (either TA or AT) causing a frameshift and an in-frame stop codon 4 codons downstream [fs234Ter]; homozygosity could not be confirmed due to the unavailability of parental samples. |
| Berg MA, Argente J, Chernausek S, Gracia R, Guevara-Aguirre J, Hopp M, Pérez-Jurado L, Rosenbloom A, Toledo SP, Francke U, Diverse growth hormone receptor gene mutations in Laron syndrome American journal of human genetics52:998-1005 1993 |
| PubMed ID: 8488849 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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