Establishment of a non-integrated iPSC (SDQLCHi068-A) line derived from a patient with autosomal dominant immunodeficiency-14A carrying a heterozygous mutation (c.3061G>A) in PIK3CD gene.
Stem Cell Res
; 77: 103385, 2024 Jun.
Article
in En
| MEDLINE
| ID: mdl-38507881
ABSTRACT
Phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta (PIK3CD) gene (OMIM#602839) encodes the p110δ catalytic subunit, mainly expressed in immune cells, and is associated with autosomal dominant immunodeficiency-14A with lymphoproliferation (IMD14A, #615513). We generated a human iPS cell line from a 50-month-old boy with IMD14A carrying a heterozygous mutation (c.3061G>A, p.E1021K) in PIK3CD gene. This cell line retains the original mutation site and shows differentiation potential towards three germ layers in vitro, which can be used as a disease model for research.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Induced Pluripotent Stem Cells
/
Class I Phosphatidylinositol 3-Kinases
/
Heterozygote
Limits:
Child, preschool
/
Humans
/
Male
Language:
En
Journal:
Stem Cell Res
/
Stem cell research (Online)
Year:
2024
Document type:
Article
Affiliation country:
China
Country of publication:
Reino Unido