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Cellosaurus RUCDRi002-A-69 (CVCL_D6MC)

[Text version]
Cell line name RUCDRi002-A-69
Synonyms PLP1-C33Y
Accession CVCL_D6MC
Resource Identification Initiative To cite this cell line use: RUCDRi002-A-69 (RRID:CVCL_D6MC)
Comments From: University Medical Center Goettingen; Goettingen; Germany.
Population: Hispanic.
Derived from site: In situ; Umbilical cord blood; UBERON=UBERON_0012168.
Sequence variations
  • Mutation; HGNC; 9086; PLP1; Simple_edited; p.Cys33Tyr (c.98G>A); ClinVar=VCV000420045; Zygosity=Hemizygous; Note=By CRISPR/Cas9 (PubMed=38104430).
Disease Pelizaeus-Merzbacher disease (NCIt: C75487)
Pelizaeus-Merzbacher disease (ORDO: Orphanet_702)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_RH35 (ND50038)
Sex of cell Male
Age at sampling <1D
Category Induced pluripotent stem cell
Publications

PubMed=38104430; DOI=10.1016/j.scr.2023.103276
Schreiber M.-K., Zafeiriou M.-P.
Generation of Pelizaeus-Merzbacher disease (PMD) mutant (PLP1-C33Y) in induced pluripotent stem cell (iPSC) by CRISPR/Cas9 genome editing.
Stem Cell Res. 74:103276-103276(2024)

Cross-references
Cell line databases/resources hPSCreg; RUCDRi002-A-69
Entry history
Entry creation02-May-2024
Last entry update02-May-2024
Version number1