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Cellosaurus WAe001-A-27 (CVCL_XD78)

[Text version]
Cell line name WAe001-A-27
Synonyms H1_MECP2_KO3; KO3; MAPe002-A-27
Accession CVCL_XD78
Resource Identification Initiative To cite this cell line use: WAe001-A-27 (RRID:CVCL_XD78)
Comments From: Translational Laboratory in Genetic Medicine, Agency for Science, Technology and Research; Singapore; Singapore.
Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
Cell type: Embryonic stem cell; CL=CL_0002322.
Sequence variations
  • Mutation; HGNC; HGNC:6990; MECP2; Simple_edited; p.Pro230fs; Zygosity=Hemizygous; Note=By CRISPR/Cas9 (PubMed=31450191).
Disease Rett syndrome (NCIt: C75488)
Rett syndrome (ORDO: Orphanet_778)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_9771 (WA01)
Sex of cell Male
Age at sampling Blastocyst stage
Category Embryonic stem cell
Publications

PubMed=31450191; DOI=10.1016/j.scr.2019.101533
Zeng R.-Z., Sidik H., Robinson K.S., Zhong F.L., Reversade B., Pouladi M.A.
Generation of four H1 hESC sublines carrying a hemizygous knock-out/mutant MECP2.
Stem Cell Res. 40:101533-101533(2019)

Cross-references
Cell line databases/resources hPSCreg; WAe001-A-27
Encyclopedic resources Wikidata; Q98134699
Entry history
Entry creation06-Sep-2019
Last entry update19-Dec-2024
Version number9