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Cellosaurus KSCBi018-A-1 (CVCL_C1TV)

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Cell line name KSCBi018-A-1
Synonyms hiPSC-TPM1_KI; YUCMi019-A-1
Accession CVCL_C1TV
Resource Identification Initiative To cite this cell line use: KSCBi018-A-1 (RRID:CVCL_C1TV)
Comments From: National Institute of Health, Korea-National Stem Cell Bank (KSCB); Cheongwon-gun; South Korea.
Population: Korean.
Derived from site: In situ; Umbilical cord blood; UBERON=UBERON_0012168.
Sequence variations
  • Mutation; HGNC; HGNC:12010; TPM1; Simple_edited; p.Glu192Lys (c.574G>A); ClinVar=VCV000031882; Zygosity=Heterozygous; Note=By CRISPR/Cas9. The cell also contains c.576G>A which is a silent mutation (PubMed=35917600).
Disease Familial hypertrophic cardiomyopathy type 3 (NCIt: C182076)
Rare familial disorder with hypertrophic cardiomyopathy (ORDO: Orphanet_99739)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_WR33 (CMC-hiPSC-011)
Sex of cell Male
Age at sampling <1D
Category Induced pluripotent stem cell
Publications

PubMed=35917600; DOI=10.1016/j.scr.2022.102878
Ji-Young Kang, Dasom Mun, Yumin Chun, Hyoeun Kim, Nuri Yun, Seung-Hyun Lee, Boyoung Joung;
Generation of a heterozygous TPM1-E192K knock-in human induced pluripotent stem cell line using CRISPR/Cas9 system.
Stem Cell Res. 63:102878-102878(2022)

Cross-references
Cell line databases/resources hPSCreg; KSCBi018-A-1
Encyclopedic resources Wikidata; Q114311854
Entry history
Entry creation22-Sep-2022
Last entry update19-Dec-2024
Version number5