ID   HEBHMUi018-A
AC   CVCL_E4DB
SY   HCHB-018
DR   BioSamples; SAMEA115793210
DR   hPSCreg; HEBHMUi018-A
RX   PubMed=39437565;
CC   From: Hebei Medical University; Shijiazhuang; China.
CC   Sequence variation: Mutation; HGNC; HGNC:132; ACTB; Simple; p.Ser199Arg (c.597C>G); ClinVar=VCV000279938; Zygosity=Heterozygous (PubMed=39437565).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C205644; Nicolaides-Baraitser syndrome
DI   ORDO; Orphanet_3051; Nicolaides-Baraitser syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   4Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-24; Last updated: 19-12-24; Version: 1
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RX   PubMed=39437565; DOI=10.1016/j.scr.2024.103577;
RA   Hou X.-L., Wang Z.-X., Guo R.-Y., Zhou Z.-J., Zhang J., Li Y.,
RA   Akogo H.Y., Ma J.-J., Chen W.-Q., Sun D.-L., Ma J., Guo Q., Cui H.-X.;
RT   "Derivation of induced pluripotent stem cell from a Baraitser-Winter
RT   cerebrofrontofacial syndrome with ACTB mutation.";
RL   Stem Cell Res. 81:103577-103577(2024).
//