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Cellosaurus HIHTFi001-C (CVCL_A0ZN)

[Text version]
Cell line name HIHTFi001-C
Synonyms RHOT1 K572R
Accession CVCL_A0ZN
Resource Identification Initiative To cite this cell line use: HIHTFi001-C (RRID:CVCL_A0ZN)
Comments From: Hertie-Institut fur Klinische Hirnforschung; Tubingen; Germany.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 21168; RHOT1; Simple_edited; p.Lys572Arg (c.1714_1716AAA>CGG); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=34359002).
Disease Parkinson's disease (NCIt: C26845)
Hereditary late-onset Parkinson disease (ORDO: Orphanet_411602)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_A4ML (ID 16423 iPSC)
Sex of cell Female
Age at sampling 77Y
Category Induced pluripotent stem cell
Publications

PubMed=34359002; DOI=10.1016/j.scr.2021.102469
Schwarz L., Casadei N., Fitzgerald J.C.
Generation of R272Q, S156A and K572R RHOT1/Miro1 point mutations in iPSCs from a healthy individual using FACS-assisted CRISPR/Cas9 genome editing.
Stem Cell Res. 55:102469-102469(2021)

Cross-references
Cell line databases/resources hPSCreg; HIHTFi001-C
Encyclopedic resources Wikidata; Q108820470
Entry history
Entry creation23-Sep-2021
Last entry update29-Jun-2023
Version number5