ID   KCL029
AC   CVCL_A262
SY   KCL029(CFWAS); KCL-029; KCL029_CFWAS
DR   NIHhESC; NIHhESC-13-0225
DR   Wikidata; Q54899675
RX   PubMed=27345811;
WW   Provider; KCL; -; https://www.kcl.ac.uk/research/stem-cell-research
CC   From: King's College London; London; United Kingdom.
CC   Registration: NIH Human Embryonic Stem Cell Registry; NIHhESC-13-0225.
CC   Registration: UK Stem Cell Bank (UKSCB); R-13-007, Steering comm. appl. SCSC11-46.
CC   Sequence variation: Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Asp1152His (c.3454G>C); ClinVar=VCV000035867; Zygosity=Heterozygous (PubMed=27345811).
CC   Sequence variation: Mutation; HGNC; HGNC:12731; WAS; Simple; p.Ser272Pro (c.814T>C); ClinVar=VCV000029966; Zygosity=Hemizygous (PubMed=27345811).
CC   Omics: Variations; Array-based CGH.
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
DI   NCIt; C3448; Wiskott-Aldrich syndrome
DI   ORDO; Orphanet_906; Wiskott-Aldrich syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 06-06-12; Last updated: 10-04-25; Version: 24
//
RX   PubMed=27345811; DOI=10.1016/j.scr.2015.12.040; PMCID=PMC4757721;
RA   Miere C., Hewitson H., Wood V., Kadeva N., Cornwell G., Codognotto S.,
RA   Stephenson E.L., Ilic D.;
RT   "Generation of KCL029 research grade human embryonic stem cell line
RT   carrying a mutation in WAS gene.";
RL   Stem Cell Res. 16:189-191(2016).
//