The use of CRISPR for variant specificity in the genetic diagnosis of primary immunodeficiency disease (PID)
ABSTRACT The functional validation of genetic variants of uncertain significance (VUS) found in PID patients by next-generation sequencing has traditionally been carried out in model systems that are susceptible to artefact. We use CRISPR correction of primary human T lymphocytes to demonstrate that a specific variant in an IL-6R deficient patient is causative for their condition. This methodology can be adapted and used for variant assessment of the heterogeneous genetic defects that affect T lymphocytes in PID..
| Medienart: |
|
|---|
Preprint| Erscheinungsjahr: |
2019 |
|---|---|
| Erschienen: |
2019 |
| Enthalten in: |
bioRxiv.org - (2019) vom: 17. Okt. Zur Gesamtaufnahme - year:2019 |
|---|
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Mann, Tiffeney [VerfasserIn] |
|---|
| Links: |
Volltext [kostenfrei] |
|---|
| doi: |
10.1101/804732 |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
XBI000644331 |
|---|
| LEADER | 01000caa a22002652 4500 | ||
|---|---|---|---|
| 001 | XBI000644331 | ||
| 003 | DE-627 | ||
| 005 | 20230429082654.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 200312s2019 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1101/804732 |2 doi | |
| 035 | |a (DE-627)XBI000644331 | ||
| 035 | |a (DE-599)biorXiv10.1101/804732 | ||
| 035 | |a (biorXiv)10.1101/804732 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 082 | 0 | |a 570 |q DE-84 | |
| 100 | 1 | |a Mann, Tiffeney |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a The use of CRISPR for variant specificity in the genetic diagnosis of primary immunodeficiency disease (PID) |
| 264 | 1 | |c 2019 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 520 | |a ABSTRACT The functional validation of genetic variants of uncertain significance (VUS) found in PID patients by next-generation sequencing has traditionally been carried out in model systems that are susceptible to artefact. We use CRISPR correction of primary human T lymphocytes to demonstrate that a specific variant in an IL-6R deficient patient is causative for their condition. This methodology can be adapted and used for variant assessment of the heterogeneous genetic defects that affect T lymphocytes in PID. | ||
| 700 | 1 | |a Smith, Amy |e verfasserin |4 aut | |
| 700 | 1 | |a Spencer, Sarah |e verfasserin |4 aut | |
| 700 | 1 | |a Russell, Alasdair |e verfasserin |4 aut | |
| 700 | 1 | |a Thaventhiran, James |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t bioRxiv.org |g (2019) vom: 17. Okt. |
| 773 | 1 | 8 | |g year:2019 |g day:17 |g month:10 |
| 856 | 4 | 0 | |u http://dx.doi.org/10.1101/804732 |z kostenfrei |3 Volltext |
| 912 | |a GBV_XBI | ||
| 912 | |a SSG-OLC-PHA | ||
| 951 | |a AR | ||
| 952 | |j 2019 |b 17 |c 10 | ||
| 953 | |2 045F |a 570 | ||