ID   NFHHMUi001-A
AC   CVCL_C1V1
DR   BioSamples; SAMEA13602499
DR   hPSCreg; NFHHMUi001-A
DR   Wikidata; Q114312505
RX   PubMed=35716468;
CC   From: Department of Neurosurgery, First Affiliated Hospital of Harbin Medical University; Harbin; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 1573; KRIT1; Simple; p.Thr545fs*6 (c.1635delA); Zygosity=Heterozygous (PubMed=35716468).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84626; Cerebral cavernous malformation
DI   ORDO; Orphanet_221061; Familial cerebral cavernous malformation
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   44Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 29-06-23; Version: 4
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RX   PubMed=35716468; DOI=10.1016/j.scr.2022.102838;
RA   Sun R.-H., Liu Q., Mu L., Wang A.-W., Zhao J.-J., Long Y., Liu L.;
RT   "A familiar cerebral cavernous malformations (FCCMs) patient with CCM1
RT   deletion-frameshift mutation generates an induced pluripotent stem
RT   cell line (NFHHMUi001-A).";
RL   Stem Cell Res. 63:102838-102838(2022).
//