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Cellosaurus SUi003-A (CVCL_A4YU)

[Text version]
Cell line name SUi003-A
Synonyms iPSC-SZ-HU-PROB 1
Accession CVCL_A4YU
Resource Identification Initiative To cite this cell line use: SUi003-A (RRID:CVCL_A4YU)
Comments From: Semmelweis University; Budapest; Hungary.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:6316; KHSRP; Simple; p.Gly403Cys (c.1207G>T) (chr19:g.6416869C>A); Zygosity=Heterozygous; Note=De novo mutation (PubMed=33503521).
  • Mutation; HGNC; HGNC:6329; KIR2DL1; Simple; c.412A>T (chr19:g.55286658A>T); Zygosity=Heterozygous; Note=De novo mutation (PubMed=33503521).
  • Mutation; HGNC; HGNC:18531; LRRC7; Simple; p.Val1158Ile (c.3472G>A) (chr1:g.70505093G>A); Zygosity=Heterozygous; Note=De novo mutation (PubMed=33503521).
Disease Schizophrenia (NCIt: C3362)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_A4YV ! SUi003-B
Sex of cell Male
Age at sampling 24Y
Category Induced pluripotent stem cell
Publications

PubMed=33503521; DOI=10.1016/j.scr.2020.102140
Hathy E., Szabo E., Vincze K., Haltrich I., Kiss E., Varga N., Erdei Z., Varady G., Homolya L., Apati A., Rethelyi J.M.
Generation of multiple iPSC clones from a male schizophrenia patient carrying de novo mutations in genes KHSRP, LRRC7, and KIR2DL1, and his parents.
Stem Cell Res. 51:102140-102140(2021)

Cross-references
Cell line databases/resources hPSCreg; SUi003-A
Encyclopedic resources Wikidata; Q107116977
Entry history
Entry creation20-May-2021
Last entry update19-Dec-2024
Version number6