Generation of a human induced pluripotent stem cell line (PHAi003) from a primary immunodeficient patient with CD70 mutation

Jonathan Arias-Fuenzalida; Jingwei Yu; Hassan Abolhassani; Likun Du; Joaquin Custodio; Qiang Pan-Hammarström

doi:10.1016/j.scr.2019.101612

Generation of a human induced pluripotent stem cell line (PHAi003) from a primary immunodeficient patient with CD70 mutation

Stem Cell Res. 2019 Dec:41:101612. doi: 10.1016/j.scr.2019.101612. Epub 2019 Oct 25.

Authors

Jonathan Arias-Fuenzalida¹, Jingwei Yu², Hassan Abolhassani³, Likun Du⁴, Joaquin Custodio⁵, Qiang Pan-Hammarström⁶

Affiliations

¹ Karolinska Institutet, Department of Biosciences and Nutrition, Sweden. Electronic address: Fuenzalida@ki.se.
² Karolinska Institutet, Department of Biosciences and Nutrition, Sweden; Department of Lymphoma, Tianjin Medical University Cancer Institute and Hospital, National Clinical Research Center of Cancer, Key Laboratory of Cancer Prevention and Therapy, Tianjin, China.
³ Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, Stockholm, Sweden.
⁴ Karolinska Institutet, Department of Biosciences and Nutrition, Sweden.
⁵ Science for Life Laboratory, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Sweden.
⁶ Karolinska Institutet, Department of Biosciences and Nutrition, Sweden. Electronic address: Hammarstrom@ki.se.

PMID: 31678777
DOI: 10.1016/j.scr.2019.101612

Abstract

Primary immunodeficiency (PID) comprises a heterogeneous group of over 330 genetic disorders, caused mainly by single-gene mutations, such as CD70. We generated human induced pluripotent stem cell lines, PHAi003-A and PHAi003-B, from a PID patient carrying the homozygous frameshift CD70 mutation c.250delT. The CD70 c.250delT genotype results in a complete loss of expression variant. This patient is one of the five CD70 deficient individuals described to date, and presented hypogammaglobulinemia, EBV associated Hodgkin's lymphoma and susceptibility to other viral infections. The PHAi003-A and PHAi003-B lines are a unique resource for PID modeling and studying CD70-mediated immunity in human cells.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Base Sequence
CD27 Ligand / genetics*
Cell Culture Techniques / methods*
Cell Line / pathology*
Female
Humans
Induced Pluripotent Stem Cells / pathology*
Mutation / genetics*
Primary Immunodeficiency Diseases / genetics*
Primary Immunodeficiency Diseases / pathology*

Substances

CD27 Ligand
CD70 protein, human