Cellosaurus cell line KCL029 (CVCL

Cellosaurus KCL029 (CVCL_A262)

Cross-references
Cell line name	KCL029
Synonyms	KCL029(CFWAS); KCL-029; KCL029_CFWAS
Accession	CVCL_A262
Resource Identification Initiative	To cite this cell line use: KCL029 (RRID:CVCL_A262)
Comments	From: King's College London; London; United Kingdom. Registration: NIH Human Embryonic Stem Cell Registry; NIHhESC-13-0225. Registration: UK Stem Cell Bank (UKSCB); R-13-007, Steering comm. appl. SCSC11-46. Omics: Variations; Array-based CGH. Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358. Cell type: Embryonic stem cell; CL=CL_0002322.
Sequence variations	Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Asp1152His (c.3454G>C); ClinVar=VCV000035867; Zygosity=Heterozygous (PubMed=27345811). Mutation; HGNC; HGNC:12731; WAS; Simple; p.Ser272Pro (c.814T>C); ClinVar=VCV000029966; Zygosity=Hemizygous (PubMed=27345811).
Disease	Wiskott-Aldrich syndrome (NCIt: C3448) Wiskott-Aldrich syndrome (ORDO: Orphanet_906)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	Blastocyst stage
Category	Embryonic stem cell
Web pages	Provider; KCL; -; https://www.kcl.ac.uk/research/stem-cell-research
Publications	PubMed=27345811; DOI=10.1016/j.scr.2015.12.040; PMCID=PMC4757721 Cristian Miere, Heema Hewitson, Victoria Wood, Neli Kadeva, Glenda Cornwell, Stefano Codognotto, Emma L. Stephenson, Dusko Ilic; Generation of KCL029 research grade human embryonic stem cell line carrying a mutation in WAS gene. Stem Cell Res. 16:189-191(2016)
Cell line databases/resources	NIHhESC; NIHhESC-13-0225
Encyclopedic resources	Wikidata; Q54899675
Entry history
Entry creation	06-Jun-2012
Last entry update	10-Apr-2025
Version number	24