ID   WISCi016-A-1
AC   CVCL_ZB38
SY   WC-14-01-AL-AM-GFAP-R416R
DR   hPSCreg; WISCi016-A-1
DR   Wikidata; Q98134944
RX   PubMed=30355500;
CC   From: University of Wisconsin; Madison; USA.
CC   Sequence variation: Mutation; HGNC; 4235; GFAP; Simple_corrected; p.Arg416Trp (c.1246C>T); ClinVar=VCV000016169; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=30355500).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84545; Alexander disease
DI   ORDO; Orphanet_58; Alexander disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_ZB37 ! WISCi016-A
SX   Male
AG   8Y
CA   Induced pluripotent stem cell
DT   Created: 02-07-20; Last updated: 29-06-23; Version: 6
//
RX   PubMed=30355500; DOI=10.1016/j.celrep.2018.09.083;
RA   Jones J.R., Kong L.-H., Hanna M.G. IV, Hoffman B., Krencik R.,
RA   Bradley R., Hagemann T., Choi J., Doers M.E., Dubovis M., Sherafat M.A.,
RA   Bhattacharyya A., Kendziorski C.M., Audhya A., Messing A., Zhang S.-C.;
RT   "Mutations in GFAP disrupt the distribution and function of organelles
RT   in human astrocytes.";
RL   Cell Rep. 25:947-958.e4(2018).
//