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Cellosaurus GM27882 (CVCL_A2TD)

[Text version]
Cell line name GM27882
Synonyms GM27882*C; 1123-FOXG1-LOF-Het#A4
Accession CVCL_A2TD
Resource Identification Initiative To cite this cell line use: GM27882 (RRID:CVCL_A2TD)
Comments Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:3811; FOXG1; Simple_edited; p.Ser19Glnfs*120 (c.53_54insT); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (Coriell=GM27882).
Disease Rett syndrome, congenital variant (NCIt: C176903)
Atypical Rett syndrome (ORDO: Orphanet_3095)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_A2TY (S1123-01 iPS #3)
Sex of cell Male
Age at sampling 52Y
Category Induced pluripotent stem cell
Publications

PubMed=37071670; DOI=10.1089/crispr.2022.0050; PMCID=PMC10123805
Panda A., Suvakov M., Mariani J., Drucker K.L., Park Y., Jang Y., Kollmeyer T.M., Sarkar G., Bae T., Kim J.J., Yoon W.H., Jenkins R.B., Vaccarino F.M., Abyzov A.
Clonally selected lines after CRISPR-Cas editing are not isogenic.
CRISPR J. 6:176-182(2023)

Cross-references
Cell line collections (Providers) Coriell; GM27882
Encyclopedic resources Wikidata; Q105507389
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number7